2021 576 Moesm2 Esm

The impact of demography in functional variation: whole-exome analysis in Tun
Scientific Reports
Marcel Lucas-Sánchez1, Neus Font-Porterias1, Francesc Calafell1, Karima Fadhlaoui-
1
Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), Departament de Ci
2
Laboratory of Genetics, Immunology, and Human Pathologies, Faculty of Science o
University of Tunis El Manar, Tunis, Tunisia
3
College of Science, Department of Biology, Taibah University, Al Madinah Al Mon
Saudi Arabia
*
Correspondence author – e-mail: david.comas@upf.edu
exome analysis in Tunisian Imazighen and Arabs
ell1, Karima Fadhlaoui-Zid2,3, David Comas1,*
ra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelon

s, Faculty of Science of Tunis,
y, Al Madinah Al Monawarah,
Pompeu Fabra, Barcelona, Spain
Table S1 Per-individual segregating sites
The first column contains the average number of segregating (i.e. not fixed) sites per individual. The
of segregating sites per individual that are unique for each population, i.e. that are fixed in all other
Population Per-individual segregating sites

Tunisian Amazigh 5747.96
Tunisian non-Amazigh 6635.68
MOZ 6206.50
YEM 6068.24
CEU 5377.53
CHB 4943.19
ITU 5555.88
YRI 7928.06
LWK 8160.41
ing (i.e. not fixed) sites per individual. The second column contains the average number
h population, i.e. that are fixed in all other populations studied.
Population specific per-individual segregating sites

476.78
580.08
584.31
760.63
620.01
956.75
865.05
1600.76
1759.89
mber
Table S2 Statistical significance of the difference of density in the SFS between Tunisian popul
Each column contains, for each frequency category of the SFS (e.g. singletons, doubletons, etc.), the
between Tunisian Imazighen and Tunisian non-Imazighen between the two stated GERP RS score ca
performed consisting in 1,000 iterations taking each time 18 random individuals from each Tunisian
calculated and the first 10 density values for both populations were noted down. “Non-Neutral” inclu
RS score categories. Statistical significance is shown in the following way: *p-value < 0.05, **p-val
of segregating sites per individual that are unique for each population, i.e. that are fixed in all other
Neutral to Moderate to
Frequency Category Large to Extreme
Moderate Large
1 3.14x10-09 *** < 2.2x10-16 *** < 2.2x10-16 ***
2 0.11 4.69x10-06 *** < 2.2x10-16 ***
3 1.05x10-07 *** < 2.2x10-16 *** < 2.2x10-16 ***
4 6.26x10-08 *** < 2.2x10-16 *** < 2.2x10-16 ***
5 1.13x10-08 *** < 2.2x10-16 *** < 2.2x10-16 ***
6 5.01x10-12 *** < 2.2x10-16 *** < 2.2x10-16 ***
7 3.48x10-3 ** < 2.2x10-16 *** < 2.2x10-16 ***
8 0.39 < 2.2x10-16 *** < 2.2x10-16 ***
9 0.30 < 2.2x10-16 *** 2.94 x10-6 ***

10 0.54 < 2.2x10-16 *** 0.03 *
tween Tunisian populations through different pairs of GERP RS score categories
s, doubletons, etc.), the p-value resulting from a t-test comparing the difference of density
ated GERP RS score categories. Before running the t-tests, a bootstrap analysis was
als from each Tunisian population and allowing resampling. In each iteration, SFS was
wn. “Non-Neutral” includes all sites in the “Moderate”, “Large”, and “Extreme” GERP
p-value < 0.05, **p-value < 0.01, ***p-value < 0.001.
at are fixed in all other populations studied.
Neutral to Non- Neutral to Moderate to

Neutral to Large
Neutral Extreme Extreme
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
0.87 9.05x10-10 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 *** < 2.2x10-16 ***
< 2.2x10-16 *** < 2.2x10-16 *** 7.56x10-09 *** 2.2x10-09 ***
< 2.2x10-16 *** < 2.2x10-16 *** 0.44 0.35
Table S3 Enrichment analysis summary
Each row indicates the traits, pathways or diseases that pass the significance thresholds for each data
information on these thresholds can be found in Materials and Methods.
Database
OMIM
GO resourceb
GWAS catalog
CPDBd
As named in the corresponding database.

a
b
Only the lowest trait in GO hierarchy is noted although others above are also significan
c
The enumeration denotes different traits.
d
Only traits passing the top significance threshold are shown because of the long list of t
second significance category
ment analysis summary
es the traits, pathways or diseases that pass the significance thresholds for each database. More
hese thresholds can be found in Materials and Methods.
Traits, pathways or diseases matching the significance criteria a
Hypercholesterolemia, familial; Hypertension, essential; Lung canceralveolar

cell carcinoma, included; Prostate cancer; Alcohol dependence; Diabetes
mellitus, insulin-dependent; Juvenile myelomonocytic leukemia; Lymphoma,
non-Hodgkin, familial; Parkinson disease, late-onset; Renal cell carcinoma,
nonpapillary.
Detection of stimulus involved in sensory perception of smell; Cholesterol

homeostasis and effluxc; Cellular response to Low-Density Lipoprotein
Particle Stimulus; Positive regulation of lipid localization, neuron migration
and voltage-gated calcium channel activityc; Negative regulation of inclusion
body assembly; Response to fluid shear stress; Sensory perception of sweet
and umami tastesc; T-Helper 1 Cell Cytokine Production; Trigeminal
Ganglion Development.
Height; Blood protein levels; Body mass index; Adolescent idiopathic

scoliosis; Metabolite levels; Asthma (and related traits); Lung function;
Waist-related traits; Heel-bone mineral density and other mineral density-
related traits; Arthritis-related traits; Red and white blood cell count c;
Colorectal cancer; Inflammatory bowel disease; Type 2 diabetes.
Collagen biosynthesis and modifying enzymes; Collagen chain trimerization;

Eicosapentaenoate biosynthesis; Fatty acid activation; G alpha (s) signaling
events; NO2-dependent IL-12 pathway in NK cells; Olfactory receptor
activity; Olfactory Signaling Pathway; Olfactory transduction - Homo sapiens
(human); Phytanic acid peroxisomal oxidation; rRNA processing and
modification in the nucleus and cytosolc.
he corresponding database.
st trait in GO hierarchy is noted although others above are also significant.
on denotes different traits.
sing the top significance threshold are shown because of the long list of traits in the
ance category (see Table S8).
Table S4 Complete OMIM enrichment analysis results
All traits appearing in the enrichment analysis performed using OMIM as reference database, div
Following the trait description is the size of the reference gene set, the expected number of set gen
number of expected genes), the p-value and the false discovery rate (FDR) of the over-representat
Criteria met
FDR < 0.05
p < 0.05 and ratio

higher than mean
ratio
p < 0.05
p < 0.05
Other appearing
traits
*GERP ≥ 6 did not report any enriched trait

omplete OMIM enrichment analysis results
pearing in the enrichment analysis performed using OMIM as reference database, divided according to the
he trait description is the size of the reference gene set, the expected number of set genes in the observed sa
xpected genes), the p-value and the false discovery rate (FDR) of the over-representation.
Description
Hypercholesterolemia, familial
Hypertension, essential
Lung canceralveolar cell carcinoma, included
Prostate cancer
Prostate cancer
Alcohol dependence
Alcohol dependence
Diabetes mellitus, insulin-dependent
Juvenile myelomonocytic leukemia
Lymphoma, non-hodgkin, familial
Parkinson disease, late-onset
Prostate cancer
Renal cell carcinoma, nonpapillary
Alcohol dependence
Diabetes mellitus, noninsulin-dependent
Gastric cancergastric cancer, intestinal, included
Human immunodeficiency virus type 1, susceptibility to
Leukemia, acute myeloid
Malaria, susceptibility tomalaria, resistance to, included
Obesityleanness, included
Parkinson disease, late-onset
Prostate cancer
Tracheoesophageal fistula with or without esophageal atresia
Malaria, susceptibility tomalaria, resistance to, included
6 did not report any enriched trait
vided according to the significance criteria met (see Materials and Methods for details).
enes in the observed sample, the ratio of enrichment (number of observed genes divided by the
ation.
Size Expect Ratio P-Value FDR

7 0.050 40.048 1.00E-03 1.30E-02
7 0.017 120.140 1.03E-04 5.37E-03
12 0.086 35.042 6.73E-05 1.75E-03
12 0.046 64.692 9.73E-06 2.53E-04
12 0.039 50.970 6.30E-04 2.59E-02
15 0.107 28.033 1.37E-04 2.38E-03
15 0.049 40.776 9.98E-04 2.59E-02
11 0.078 38.227 5.07E-05 1.75E-03
11 0.043 70.573 7.31E-06 2.53E-04
6 0.014 70.083 1.42E-02 2.73E-01
6 0.023 43.128 2.30E-02 2.27E-01
5 0.010 96.114 1.04E-02 2.15E-01
5 0.016 61.164 1.63E-02 1.97E-01
7 0.023 43.688 2.27E-02 1.97E-01
5 0.010 96.114 1.04E-02 2.15E-01
5 0.016 61.164 1.63E-02 1.97E-01
6 0.023 43.128 2.30E-02 2.27E-01
7 0.017 60.071 1.65E-02 2.73E-01
11 0.023 43.688 2.27E-02 2.57E-01
6 0.012 80.095 1.24E-02 2.15E-01
6 0.020 50.970 1.95E-02 1.97E-01
6 0.043 23.361 4.21E-02 1.96E-01
5 0.036 28.033 3.52E-02 1.96E-01
28 0.200 10.012 1.65E-02 1.43E-01
8 0.031 32.346 3.05E-02 2.27E-01
10 0.039 25.877 3.80E-02 2.47E-01
7 0.027 36.967 2.68E-02 2.27E-01
12 0.025 40.048 2.47E-02 2.57E-01
12 0.029 35.042 2.82E-02 2.73E-01
5 0.036 28.033 3.52E-02 1.96E-01
18 0.043 23.361 4.21E-02 2.73E-01
15 0.031 32.038 3.08E-02 2.67E-01
15 0.036 28.033 3.52E-02 2.73E-01
15 0.036 28.033 3.52E-02 2.73E-01
7 0.027 36.967 2.68E-02 2.27E-01
11 0.036 27.802 3.54E-02 2.63E-01
6 0.043 23.361 4.21E-02 1.96E-01
17 0.121 16.490 6.22E-03 6.46E-02
17 0.040 24.735 3.98E-02 2.73E-01
28 0.058 17.163 5.69E-02 4.23E-01
28 0.067 15.018 6.47E-02 3.74E-01
28 0.092 10.922 8.80E-02 5.08E-01
15 0.058 17.251 5.65E-02 2.85E-01
15 0.058 17.251 5.65E-02 2.85E-01
17 0.056 17.989 5.43E-02 3.53E-01
rials and Methods for details).
mber of observed genes divided by the
Gene subset*
All Categories
2 ≤ GERP < 4
All Categories
PP Possibly damaging
PP Probably damaging
All Categories
All Categories
2 ≤ GERP < 4
4 ≤ GERP < 6
4 ≤ GERP < 6
2 ≤ GERP < 4
4 ≤ GERP < 6
4 ≤ GERP < 6
All Categories
All Categories
All Categories
4 ≤ GERP < 6
2 ≤ GERP < 4
All Categories
2 ≤ GERP < 4
4 ≤ GERP < 6
2 ≤ GERP < 4
2 ≤ GERP < 4
All Categories
All Categories
2 ≤ GERP < 4
4 ≤ GERP < 6
2 ≤ GERP < 4
Table S5 SNPs with large frequency difference between Tunisian Imazighen and non-Imazi
analysis
For each SNP, the table shows the related gene, its ID, whether the SNP is reported or not in the O
the allele frequency in each of the two Tunisian populations, Imazighen (TA) and non-Imazighen
OMIM entry Gene
ABCA1
ITIH4
ADD1
ADD1
NOS2
SELE
DLEC1/ACAA1
Lung canceralveolar cell
carcinoma, included ERCC6/PGBD3
HIP1
Prostate cancer MSR1
ZFHX3
Alcohol dependance ADH1C
Diabetes mellitus, insulin-

ITPR3
dependent
Juvenile myelomonocytic
NF1
leukemia
Lymphoma, non-hodgkin,
CASP10
familial
Parkinson disease, late-onset ADH1C
Renal cell carcinoma,
OGG1
nonpapillary
PPP1R3A
Diabetes mellitus, non-insulin
dependent, insuline resistance, PPP1R3A
susceptibility to, included
WFS1
Human immunodeficiency virus
CXCR1
type 1, susceptibility to
Obesity - Leanness included AGRP
Sytemic lupus Erythematosus /

NOS2
Malaria, severe, susceptibility to
FANCG
Tracheoesophageal fistula with or
without esophageal atresia
FANCD2
a
Not a variant present in the final enrichment analysis, but relevant for this trait and with significant differences be
b
Specifically, reported for Insulin resistance, severe
c
Also reported for Non-syndromic Hearing Loss, Dominant / WFS1-Related Spectrum Disorders
ween Tunisian Imazighen and non-Imazighen and possible biomedical implications within the genes i
whether the SNP is reported or not in the OMIM database, its genomic consequence according to dbSNP,
ations, Imazighen (TA) and non-Imazighen (TNA), and its GERP RS score.
Reported in
SNP ID Genomic consequence
OMIM
rs200030513 No missense variant

rs4961 Yes missense variant
4:100260782a No missense variant
rs1378202090 No intron variant
4:100260782a No missense variant

rs5030980 Yes missense variant
ant for this trait and with significant differences between both populations
FS1-Related Spectrum Disorders

plications within the genes in the relevant gene sets from the OMIM enrichment
equence according to dbSNP, its clinical significance according to ClinVar (if reported),
Derived allele frequency (derived

Clinical significance (ClinVar) allele)
TA TNA
likely benign (A) 0.14 (A) 0
not reported (T) 0.36 (T) 0.16
drug response, risk factor (T) 0.22 (T) 0.05
not reported (G) 0.25 (G) 0.087
not reported (A) 0.06 (A) 0
not reported (T) 0.14 (T) 0
not reported (G) 0.06 (G) 0
conflicting-interpretations-of-
pathogenicity, (A) 0.08 (A) 0
uncertain-significance
benign (G) 0.11 (G) 0.01

risk factorb (A) 0.31 (A) 0.08
benign, likely benignc (A) 0.22 (A) 0.05
association (obesity),
(T) 0.31 (T) 0.1
pathogenic (leanness)
benign (A) 0.06 (A) 0
not reported (G) 0.06 (G) 0

GERP RS Score
2.93
3.03
5.55
4.6
3.33
4.37
5.62
0.558
5.2
1.77
3.94
2.96
5.2
5.55
1.01
2.96
5.43
5.64
3.5
4.77
4.76
2.53
3.33
3.29
4.43
Table S6 Complete GWAS catalog enrichment analysis results
All appearing traits in the GWAS catalog enrichment analysis are shown, divided per gene subset
all traits containing specific keywords of interest (i.e. containing the words "mineral density"). Fo
of the 1,000 bootstrap distribution in which we took a number of random genes from the GWAS c
(i.e. the value in the bootstrap distribution larger than 95% of all distribution values).
All Categories
GWAS Catalog Trait Observed Q95
Height 161 141
Blood protein levels 137 103
Metabolite levels 124 123
Body mass index 104 104
Containing the word "waist" 86 83
Mean corpuscular hemoglobin 52 48
Red blood cell count 50 47
White blood cell count 50 47

Inflammatory bowel disease 45 33
Containing the word "arthritis" 41 38
Coronary artery disease 40 29
Red cell distribution width 39 39
Chronotype 34 32
Night sleep phenotypes 31 26

Ulcerative colitis 31 24
DNA methylation variation (age effect) 29 24
Intraocular pressure 28 25
Hair color 26 24
Asthma (childhood onset) 25 18
Colorectal cancer 24 22
Platelet count 22 22
Birth weight 20 18
Multiple sclerosis 19 19
Waist circumference adjusted for body

19 18
mass index
Psoriasis 18 13
Triglycerides 18 18
Rheumatoid arthritis 17 17
Hip circumference adjusted for BMI 16 16
Myeloid white cell count 16 12
Age of smoking initiation (MTAG) 15 11
Blood metabolite levels 15 12
Granulocyte percentage of myeloid

15 14
white cells
Reticulocyte count 15 12
Rosacea symptom severity 15 11
Serum metabolite levels 15 12
Alcohol consumption (drinks per week)

14 10
(MTAG)
Medication use (agents acting on the
14 14
renin-angiotensin system)
Acne (severe) 13 12
Diverticular disease 13 13
Pneumonia 13 6
Reticulocyte fraction of red cells 13 12
Celiac disease 12 11
Coffee consumption 12 10
Colonoscopy-negative controls vs
12 9
population controls
Hand grip 12 12
Hand grip strength 12 12
Lymphocyte percentage of white cells 12 10
Peripheral arterial disease (traffic-

12 10
related air pollution interaction)
Chronic kidney disease 11 10
Granulocyte count 11 11
Medication use (calcium channel

11 9
blockers)
Medication use (thyroid preparations) 11 11
Neutrophil percentage of white cells 11 10
Primary biliary cholangitis 11 8
Sum neutrophil eosinophil counts 11 11
Age at menopause 10 7
Estimated glomerular filtration rate in
10 8
non-diabetics
Glucose homeostasis traits 10 7
Inflammatory skin disease 10 8
Peak expiratory flow 10 10
Risk-taking tendency (4-domain

10 9
principal component model)
Alcohol dependence 9 9
Asthma and major depressive disorder 9 7
Bitter alcoholic beverage consumption 9 8
Chronic lymphocytic leukemia 9 7
Cognitive function 9 8
Lung function (FEV1) 9 8
Medication use (beta blocking agents) 9 6
Optic disc size 9 9
QRS duration 9 8
Respiratory diseases 9 8
Serum metabolite levels (CMS) 9 7
Tea consumption 9 6
Allergic rhinitis 8 8
Ankylosing spondylitis 8 7
Asthma onset (childhood vs adult) 8 5
Corneal astigmatism 8 7
Medication use (diuretics) 8 8
Medication use (drugs used in diabetes) 8 5
Mononucleosis 8 4
Waist circumference adjusted for BMI

(joint analysis main effects and smoking 8 7
interaction)
Waist-to-hip ratio adjusted for BMI

8 5
(additive genetic model)
Adult asthma 7 4
Behcet's disease 7 3
Chin dimples 7 6
Cognitive decline (age-related) 7 4
LDL cholesterol levels in current

7 5
drinkers
LDL cholesterol levels x alcohol

consumption (drinkers vs non-drinkers) 7 7
interaction (2df)
consumption (regular vs non-regular 7 7
drinkers) interaction (2df)
Post bronchodilator FEV1 in COPD 7 6
Psoriatic arthritis 7 5
Sjögren's syndrome 7 5
Stroke 7 7
Stromal-cell-derived factor 1 alpha

7 3
levels
Triglyceride levels x alcohol

Velopharyngeal dysfunction 7 7

7 7
(adjusted for smoking behaviour)
Adiponectin levels 6 5
Asthma (age of onset) 6 4
Bilirubin levels 6 5
Central corneal thickness 6 6
Cerebrospinal fluid biomarker levels 6 5
Childhood obesity 6 5
Chronic obstructive pulmonary disease

6 5
or high blood pressure (pleiotropy)
Coenzyme Q10 levels 6 3
Intracranial aneurysm 6 6
Myocardial infarction 6 6
Neurological blood protein biomarker

6 5
levels
Psoriasis vulgaris 6 5
Serum alkaline phosphatase levels 6 4
Serum total protein level 6 5
Skin reflectance (Melanin index) 6 5
Sleep duration (short sleep) 6 6
Urinary sodium excretion 6 5
Visceral adipose tissue adjusted for BMI 6 6

6 6
in non-smokers
Alanine aminotransferase (ALT) levels
after remission induction therapy in 5 5
actute lymphoblastic leukemia (ALL)
Allergic sensitization 5 4
Anorexia nervosa 5 5
Blood osmolality (transformed sodium) 5 5
Blood pressure (smoking interaction) 5 3

Bone mineral density (spine) 5 5
Carotid intima media thickness 5 3

5 5
or resting heart rate (pleiotropy)
Corneal structure 5 4
Coronary artery calcified atherosclerotic

5 5
plaque score in type 2 diabetes
Crohn's disease-related phenotypes 5 1
Dupuytren's disease 5 5
End-stage coagulation 5 2
Eudaimonic well-being 5 2
Fasting blood glucose 5 5
Fasting plasma glucose 5 4
HDL cholesterol levels x long total

5 5
sleep time interaction (2df test)
Hematological and biochemical traits 5 3

Hematology traits 5 4
Heschl's gyrus morphology 5 4
Hodgkin's lymphoma 5 3
Huntington's disease progression 5 4
Idiopathic membranous nephropathy 5 3
Metabolic syndrome 5 5
Metabolic traits 5 5
Metabolite levels (lipoprotein measures) 5 3
Metabolite levels (small molecules and

5 5
protein measures)
Motion sickness 5 4
Narcolepsy 5 4
Number of common colds 5 4
Platelet aggregation 5 3
Prostate-specific antigen levels 5 5

Protein quantitative trait loci 5 5
Pulmonary function (smoking
5 5
interaction)
Pulmonary function decline 5 4
Regular attendance at a pub or social

5 4
club
Response to fenofibrate (triglyceride

5 3
levels)
Scarlet fever 5 5
Small vessel stroke 5 2
Wegener's granulomatosis 5 2
Adverse response to drug 4 4
Age at first sexual intercourse 4 4
Age at loss of ambulation in Duchenne

4 3
muscular dystrophy
Alanine transaminase levels 4 3
Alcohol use disorder (consumption

4 3
score)
Alcohol use disorder (total score) 4 4
Anthropometric traits (multi-trait

4 4
analysis)
Asthma and hay fever 4 3
Atypical femoral fracture in

4 2
phosphonate treatment
Automobile speeding propensity 4 4
Bipolar disorder (body mass index

4 4
interaction)
Bipolar disorder or major depressive

4 2
disorder
Body mass index (adult) 4 3
Cerebrospinal fluid clusterin levels 4 3
Chronic obstructive pulmonary disease-

4 4
related biomarkers
Colorectal cancer (calcium intake
4 1
interaction)
Copper levels 4 4
Dehydroepiandrosterone sulphate levels 4 2
Dysmenorrheic pain 4 3
Elevated serum carcinoembryonic

4 2
antigen levels
Empathy quotient 4 3
Formal thought disorder in

4 1
schizophrenia
Gamma glutamyl transferase levels in

4 3
low alcohol consumption
Glomerular filtration rate in chronic
4 3
kidney disease
Gut microbiota (alpha diversity) 4 3
Hair greying 4 3
HDL cholesterol x physical activity

4 4
interaction (2df test)
Hepatocyte growth factor levels 4 3

Hippocampal atrophy 4 4
Intake of sweets 4 2
Iris heterochromicity 4 4
Joint mobility (Beighton score) 4 3

Leprosy 4 4
Logical memory (delayed recall) in mild
4 2
cognitive impairment
Loneliness (multivariate analysis) 4 4
Lupus nephritis in systemic lupus

4 3
erythematosus
Major depression and alcohol
4 4
dependence
Memory dysfunction in frontotemporal

4 1
lobe dementia
Menstruation quality of life impact

4 2
(dysmenorrhea)
Mild influenza (H1N1) infection 4 4
Molar-incisor hypomineralization 4 2
Multisite chronic pain 4 4

Palmitoleic acid (16:1n-7) levels 4 3
QRS complex (Cornell) 4 2

Recurrent major depressive disorder 4 3
Response to bronchodilator in chronic
obstructive pulmonary disease (change 4 4
in FEV1)
Response to cognitive-behavioural
4 3
therapy in major depressive disorder
Response to fenofibrate (adiponectin

4 2
levels)
Serum metabolite concentrations in

4 3
chronic kidney disease
Time-dependent creatinine clearance
change response to tenofovir treatment
4 4
in HIV infection (time and treatment
arm interaction)
Urate levels in obese individuals 4 4
Urinary metabolites 4 3
Acute anterior uveitis (with or without

3 2
ankylosing spondylitis)
Alanine aminotransferase levels in
3 3
excessive alcohol consumption
Ankle-brachial index 3 1
Antipsychotic drug-induced QTc

3 3
interval change in schizophrenia
Antisaccade task score 3 3
Asymmetrical dimethylarginine levels 3 3
Behavioural disinhibition (generation

3 3
interaction)
Bipolar II disorder 3 2
Bitter beverage consumption 3 3
Bone mineral density (Ward's triangle

3 2
area)
Caffeine metabolism (plasma 1,7-

dimethylxanthine (paraxanthine) to 3 2
1,3,7-trimethylxanthine (caffeine) ratio)
Cannabis use (initiation) 3 2

Capecitabine sensitivity 3 2
Cerebrospinal fluid levels of
3 2
Alzheimer's disease-related proteins
Circulating fibroblast growth factor 23
3 3
levels
Circulating vasoactive peptide levels 3 1
Coronary artery disease or ischemic

3 3
stroke
Coronary artery disease or large artery
3 3
stroke
Corrected insulin response 3 1

Corrected insulin response adjusted for
3 1
insulin sensitivity index
Delirium 3 3
Diabetes in response to antihypertensive
drug treatment (treatment strategy 3 1
interaction)
Dialysis-related mortality 3 3
Electrocardiographic conduction
3 2
measures
Electrocardiographic traits 3 3
Estrone/androstenedione ratio in
resected early stage-receptor positive 3 2
breast cancer
Exploratory eye movement dysfunction
in schizophrenia (responsive search 3 3
score)
Facial emotion recognition (sad faces) 3 2
Facial morphology (factor 9, facial

height related to vertical position of 3 2
nasion)
Factor VIII levels 3 3
Follicular lymphoma 3 2
Frontal fibrosing alopecia 3 3
Fulminant type 1 diabetes 3 2

Glaucoma (primary angle closure) 3 2
Glioma 3 3
Gut microbiome composition (summer) 3 3
Heart rate increase in response to

3 2
exercise
Heart rate response to exercise 3 3
Heart rate response to recovery post

3 3
exercise (50 sec)
HIV-1 susceptibility 3 3
Hyperactive-impulsive symptoms 3 2
Hyperuricemia 3 3
Hypospadias 3 3
Interleukin-16 levels 3 3
Interstitial lung disease 3 2
Iris color (a* coordinate) 3 0

Iris color (b* coordinate) 3 0
Ischemic stroke (cardioembolic) 3 2
Limited cutaneous systemic scleroderma 3 2
Malaria 3 2
Matrix metalloproteinase-8 levels 3 1
Midgestational circulating levels of

3 1
PBDEs (fetal genetic effect)
Migraine with aura 3 2
Non-alcoholic fatty liver disease

3 2
histology (lobular)
Nonunion in individuals with fractures 3 2
Osteoarthritis of the hip or knee 3 3
Osteoarthritis of the hip or knee

3 2
(hospital diagnosed)
Pain medicine use during menstruation 3 1
Phosphorus levels 3 2
Plasma anti-thyroglobulin and anti-
thyroid peroxidase levels (bivariate 3 2
analysis)
Plasma anti-thyroglobulin levels 3 3
Plasma anti-thyroid peroxidase levels 3 3
Plasma omega-3 polyunsaturated fatty

3 3
acid levels (docosapentaenoic acid)
Prion diseases 3 2
Protein C levels 3 2
Response to (pegylated) interferon in

3 2
HBeAg-negative hepatitis B
Response to hepatitis B vaccine 3 3
Response to platinum-based
3 2
chemotherapy (carboplatin)
Response to radiotherapy in prostate

3 2
cancer (toxicity, urinary frequency)
Serum bilirubin levels x Mediterranean

diet adherence interaction in metabolic 3 2
syndrome
Sitting height ratio 3 3
Thyrotoxic hypokalemic periodic

3 3
paralysis and Graves disease
Type 1 diabetes and autoimmune

3 3
thyroid diseases
Vaginal discharge (itching) 3 1
vWF and FVIII levels 3 2
White matter hyperintensity burden 3 3
Whole brain grey matter density 3 3
1,5-anhydroglucitol levels 2 1
Acute anterior uveitis in ankylosing
2 1
spondylitis
Adverse response to chemotherapy
(neutropenia/leucopenia) (all 2 2
antimicrotubule drugs)

2 1
(neutropenia/leucopenia) (carboplatin)
Adverse response to chemotherapy in

2 1
breast cancer (alopecia) (paclitaxel)
Age-related macular degeneration
2 1
(smoking status interaction)
Alcohol consumption in current drinkers 2 1
Aluminium levels 2 2
Amygdala volume 2 2
Angiotensin-converting enzyme activity 2 1
Ankylosing spondylitis (SNP x SNP

2 1
interaction)
Antidepressant treatment resistance

2 1
(number of drugs prescribed)
Anxiety and stress-related disorders 2 2
Aspartate aminotransferase levels in

2 2
Asthma (time to onset) 2 2
Behavioural changes in frontotemporal

2 1
lobe dementia
Betaine levels in individuals undergoing

2 1
cardiac evaluation
Birdshot chorioretinopathy 2 1
Brain connectivity 2 1
Breast cancer specific mortality in

2 2
estrogen receptor positive breast cancer
Breast milk fatty acid composition

2 1
(maternal genotype effect)
Breastfeeding duration 2 2
Bronchodilator response in asthma

(inhaled corticosteroid treatment 2 1
interaction)
C-reactive protein levels in ischemic

2 1
stroke
Candidemia 2 2
Cannabis use (age at onset) 2 2
Cardiometabolic and hematological

2 2
traits
Carotid intima media thickness in

2 1
rheumatoid arthritis
Cholangiocarcinoma in primary
2 2
sclerosing cholangitis (time to event)
Chromosomal aberration frequency

2 1
(chromatid type)
Chronic bronchitis and chronic
2 2
obstructive pulmonary disease
Chronic bronchitis in chronic
2 1
Chronic mountain sickness 2 1
Chronic mucus hypersecretion 2 1
Chronic myeloid leukemia 2 1
Cleft lip with or without cleft palate

(maternal periconceptional vitamin use 2 2
interaction)
Cobalt levels 2 2
Coffee consumption (cups per day) 2 2
Common carotid intima-media thickness

2 2
in HIV negative individuals
Conduct disorder (maternal expressed

2 2
emotions interaction)
Contrast sensitivity 2 2
Coronary artery aneurysm in Kawasaki

2 2
disease
Cotinine glucuronidation 2 2
Crohn's disease (need for surgery) 2 1
Cutaneous lupus erythematosus 2 2
Cutaneous psoriasis 2 2
Delta-5 desaturase activity 2 2
Depressive and manic episodes in

2 1
bipolar disorder
Depressive episodes in bipolar disorder 2 2
Depressive symptoms (binary sum-

2 2
score)
Diastolic blood pressure response to

2 1
hydrochlorothiazide in hypertension
Digit length ratio 2 2
Digit length ratio (left hand) 2 2
Digit length ratio (right hand) 2 2

Drug experimentation measurement 2 1
Drug-induced liver injury (diclofenac) 2 1
Dysmenorrheic pain severity 2 2
E-selectin levels 2 1
Electrodermal activity 2 2
Emotional lability in attention deficit

2 2
hyperactivity disorder
Emotional recognition 2 2
Endometrial cancer (Non-endometrioid

2 2
histology)
Epigenetic age acceleration in alcohol

2 2
use disorder
Epirubicin-induced leukopenia 2 1
Epstein Barr virus nuclear antigen 1 IgG

2 1
levels or multiple sclerosis
Epstein-Barr virus immune response

2 2
(EBNA-1)
Estradiol plasma levels (breast cancer) 2 2

Extrinsic epigenetic age acceleration 2 1
Facial emotion recognition (fearful

2 1
faces)
gnathion)
Facial morphology (factor 5, width of
2 2
mouth relative to central midface)
Facial morphology traits (63 three-
2 2
dimensional facial segments)
Familial hepatitis B virus-related
2 1
hepatocellular carcinoma
Fractional exhaled nitric oxide
2 2
(childhood)
Gastric cancer 2 2
GIP levels in response to oral glucose

2 2
tolerance test (120 minutes)
Glioblastoma 2 2
Glycemic traits (pleiotropy) 2 2
Helping behaviour (self reported) 2 1
Hip geometry 2 2
Hippocampal volume in mild cognitive

2 2
impairment
HIV-associated neurocognitive disorder 2 1
HIV-associated neurocognitive disorder

(mild neurocognitive disorder or
2 1
asymptomatic neurocognitive
impairment)
Idiopathic pulmonary fibrosis 2 2
IgE grass sensitization 2 2
IgG bisecting N-acetyl glucosamine

2 1
phenotypes (multivariate analysis)
IgG digalactosylation phenotypes
2 1
(multivariate analysis)
IgG disialylation phenotypes
2 1
IgG fucosylation phenotypes

2 2
IgG galactosylation phenotypes

2 2
IgG monogalactosylation phenotypes

2 1
IgG N-glycosylation phenotypes

2 2
IgG sialylation phenotypes (multivariate

2 2
analysis)
Infant length 2 2
Inguinal hernia 2 1
Insulin disposition index 2 1
Insulin levels in response to oral glucose

2 1
Iris color (L* coordinate) 2 0
Keloid 2 1
Lactate dehydrogenase levels 2 2
Lateral ventricle temporal horn volume 2 2
Lateral ventricle volume 2 1
Left ventricular fractional shortening 2 1
Left ventricular internal dimension in

2 1
systole
Lipoprotein-associated phospholipase
2 2
A2 activity and mass
A2 activity change in response to statin 2 2
therapy
Liver enzyme levels (alanine
2 2
transaminase)
Liver enzyme levels (alkaline
2 2
phosphatase)
Longevity (90 years and older) 2 2
Low high density lipoprotein cholesterol

2 2
levels
Lung function (forced expiratory flow
during mid-portion (25% and 75%) of 2 2
forced vital capacity)
Lung function (low FEV1 vs high
2 1
FEV1) x smoking interaction
Macrophage inflammatory protein 1a
2 2
levels
Medication use (anilides) 2 2
Medication use (salicylic acid and

2 2
derivatives)

2 1
(acne)
Metabolite levels (HVA/5-HIAA ratio) 2 2
MGMT methylation in smokers 2 1

2 1
organochlorine pesticides
Mitral valve prolapse 2 2
Mucinous adenocarcinoma in colorectal

2 2
cancer
Myasthenia gravis 2 2
Narcolepsy with cataplexy 2 2
Nasal polyps 2 2
Neonatal cytokine/chemokine levels

2 2
(fetal genetic effect)
Non-cardia gastric cancer 2 1
Non-small cell lung cancer (survival) 2 1
Normal facial asymmetry (angle of

2 2
surface orientation score)
Number of children ever born 2 1
Obesity without metabolic disease 2 2
Obsessive-compulsive disorder or
2 2
autism spectrum disorder
Obstructive sleep apnea during REM
2 2
sleep (apnea hypopnea index)
Oral cavity and pharyngeal cancer 2 2
Osteoarthritis (hospital diagnosed) 2 1

Otitis media 2 2
Otitis media (chronic) 2 1
Otitis media (recurrent) 2 1
Paget's disease 2 2
Panic disorder 2 2
Parkinson disease and lewy body

2 2
pathology
Peginterferon alfa-2a treatment response

2 2
in chronic hepatitis B infection
Pemphigus foliaceus 2 1
Phosphatidylcholine levels 2 1
Phospholipid levels in large HDL 2 2
Plasma amyloid beta peptide

2 1
concentrations (ABx-42)
Plasminogen activator inhibitor type 1

2 2
levels (PAI-1)
Platelet reactivity measurement

2 1
(collagen-epinephrine)
Post-traumatic stress disorder (asjusted

2 2
for relatedness)
Postburn scar pliability 2 1
Posterior cortical atrophy and

2 2
Alzheimer's disease
Postprandial triglyceride response to

2 1
high fat diet meal
Premature menopause in childhood
2 1
cancer survivors
Prepulse inhibition of the startle

2 2
response
Preterm birth (maternal effect) 2 2

Proliferative diabetic retinopathy (vs no
2 2
DR)
Proliferative diabetic retinopathy (vs

2 2
NPDR and no DR)
QRS interval (sulfonylurea treatment
2 2
interaction)
Radiation response 2 2
Red blood cell fatty acid levels 2 2
Remission after SSRI treatment in MDD

2 1
or openness
Response to cyclophosphamide in
systemic lupus erythematosus with 2 2
lupus nephritis
Response to haloperidol in
2 1
schizophrenia
Response to mTOR inhibitor

2 2
(everolimus)
Response to platinum-based agents 2 1
neoadjuvant chemotherapy in cervical 2 2
cancer
Response to quetiapine in schizophrenia 2 2
Response to selective serotonin reuptake

2 2
inhibitors in depression
Response to simvastatin treatment
2 2
(PCSK9 protein level change)
Schizophrenia, bipolar disorder and
2 1
depression (combined)
Serous borderline ovarian cancer 2 1
Serum prostate-specific antigen levels 2 1
Serum protein levels (sST2) 2 2
Serum selenium levels 2 1
Serum tamsulosin hydrochloride

2 1
concentration
Serum total cholesterol levels 2 2
Severity of nausea and vomiting of

2 2
pregnancy
Sight-threatening diabetic retinopathy in
2 1
type 2 diabetes
Skin aging (microtopography
2 2
measurement)
Soluble E-selectin levels 2 1
Soluble levels of adhesion molecules 2 1

Staphylococcus aureus nasal carriage
2 2
(intermittent)
2 1
(persistent)
Stress sensitivity (neuroticism score x
major depressive disorder status 2 2
interaction)
Stroke (pediatric) 2 1
Subclinical atherosclerosis traits (other) 2 1
Suicide attempts in bipolar disorder or

2 2
schizophrenia
Surgical necrotising enterocolitis in
2 2
extremely premature birth
Systemising 2 2
Testosterone levels 2 2
Thiopurine S-methyltransferase activity 2 1
Total body bone mineral density (age

2 2
45-60)
Toxicity response to radiotherapy in

prostate cancer (decreased urine stream) 2 2
(time to event)
prostate cancer (hematuria) (time to 2 2
event)
Urinary metabolites (H-NMR features) 2 2
Urinary sodium to creatinine ratio 2 1

2 1
(smoking interaction)
Waist-to-hip circumference ratio

2 1
(dietary energy interaction)
Weight loss (gastric bypass surgery) 2 1
White blood cell count (eosinophil) 2 1
White matter integrity (bipolar disorder

2 1
risk interaction)
Yu-Zhi constitution type in type 2

2 2
diabetes
Accelerometer-based physical activity

1 1
measurement (average acceleration)
Acute graft versus host disease in bone

1 1
marrow transplantation (donor effect)
Acute urticaria and angioedema (non-

steroidal anti-inflammatory drug- 1 1
induced)
Adiponectin levels (BMI-adjusted) 1 1
Adiponectin levels in pregnancy 1 1

1 1
(neutropenia/leucopenia) (etoposide)
Age-related cataracts (age at onset) 1 1

1 1
(extreme sampling)
Alcohol consumption over the past year 1 1

Alcoholism (12-month weekly alcohol
1 1
consumption)
Alzheimer's disease with no specific

1 2
cognitive domain impairment
Anti-saccade error rate in psychotic

1 1
disorders
Antibody level in response to infection 1 1
Anticoagulant levels 1 2
Apolipoprotein A-IV levels 1 1
Apolipoprotein Levels 1 1
Artificially sweetened beverage

1 1
consumption
Asthma or chronic obstructive
1 1
pulmonary disease
Autism and schizophrenia (MTAG) 1 1
B-type natriuretic peptide levels 1 1
Binge eating behaviour and bipolar

1 1
disorder
Birth length 1 1
Blood and toenail selenium levels 1 1
Blood cell traits (multivariate analysis) 1 1
Blood glucose levels 1 1
Blood pressure measurement (cold

1 1
pressor test)
BMI at 1 year old 1 1
BMI at 1.5 years old 1 1
BMI at 2 years old 1 0
BMI at 6 months old 1 1
Body mass index (smoking years

1 1
interaction)
Body mass index (change over time) in
1 1
gastrointestinal cancer
Body mass index (change over time) in
gastrointestinal cancer or chronic 1 1
Body mass index in asthmatics 1 1
Bone mineral density (paediatric, lower

1 1
limb)
Bone mineral density (paediatric, upper

1 1
limb)
Brain volume in infants (cerebrospinal

1 1
fluid)
Branched-chain amino acid levels
1 1
(Isoleucine)

1 1
(Leucine)

1 1
(Valine)
Breast cancer in childhood cancer
survivors treated with more than 10 gray 1 1
radiotherapy
1 1
(infant genotype effect)
Broad depression or major depressive
1 1
disorder (self-reported)
Brooding (response to stress) 1 1

1 1
dimethylxanthine (theophylline) level)
Caffeine metabolism (plasma 1,3,7-

1 1
trimethylxanthine (caffeine) level)

1 1
dimethylxanthine (paraxanthine) level)
1 1
dimethylxanthine (theobromine) level)
Caudal middle frontal gyrus volume 1 1
Caudate nucleus volume 1 1
Cerebrospinal fluid p-tau levels in

1 1
Alzheimer's disease dementia
Cerebrospinal fluid t-tau levels in

1 1
Change in serum metabolite levels 1 1
Change in serum metabolite levels

1 1
(CMS)
Childhood dental caries in permanent

1 1
teeth

(chromatid type) in genotoxic 1 1
compound exposure
Chronic lymphocytic leukemia or
1 0
1 1
(severe)
Circulating chromogranin peptide levels 1 1
circulating leptin levels 1 1

circulating leptin levels adjusted for
1 1
BMI
Circulating myeloperoxidase levels

1 1
(serum)
Circulating odd-numbered chain
1 1
saturated fatty acid levels (C15:0)

1 1
Colorectal cancer (alcohol consumption

1 1
interaction)
Composite immunoglobulin trait
1 1
(IgG/IgM)
Corpus callosum anterior volume 1 1
Corpus callosum central volume 1 1
Creutzfeldt-Jakob disease 1 1
Creutzfeldt-Jakob disease (sporadic) 1 1
Creutzfeldt-Jakob disease (variant) 1 1
Crohn's disease (time to first abdominal

1 1
surgery)
Cystatin C 1 1
Daytime nap 1 1
Daytime sleepiness 1 1
Dengue shock syndrome 1 1
Depression in response to interferon-

1 1
based therapy in chronic hepatitis C
Depressive symptom (depressed mood)

1 1
(binary trait)
Depressive symptoms measurement

1 1
(somatic complaints domain)
DHEAS levels 1 1
Diabetic retinopathy in type 2 diabetes 1 1
Dimensional psychopathology
1 1
(Cognitive)
Early childhood aggressive behavior 1 1
Early onset atrial fibrillation 1 1
Entorhinal cortical volume 1 1

Erectile dysfunction in type 1 diabetes 1 1
Esophageal cancer (squamous cell) 1 1
Estimated glomerular filtration rate after

1 year in renal transplantation (donor 1 1
effect)
Estimated glomerular filtration rate after
5 years in renal transplantation (donor 1 1
effect)
Excessive sweating 1 1
Exhaled carbon monoxide levels in

smokers with chronic obstructive 1 1
pulmonary disease
Exploratory eye movement dysfunction
in schizophrenia (mean eye scanning 1 1
length)
Eye color traits 1 1
Facial attractiveness (female raters) 1 1
Factor VII activity or levels 1 1
Fasting blood insulin adjusted for BMI 1 1
Fourth ventricle volume 1 1

Fractional exhaled nitric oxide levels 1 1
Fractional shortening 1 1
Frontotemporal dementia (age at onset) 1 1
Frontotemporal dementia with GRN

1 1
mutation (age at onset)
Fructosamine levels 1 1
Fuchs's corneal dystrophy 1 1
Full scale intelligence quotient (cesarean

1 1
section interaction)
Gastritis 1 1
Gestational age at birth in labor-initiated

1 1
deliveries (child effect)
Glaucoma (high intraocular pressure) 1 1
Glomerular filtration rate (cystatin C) 1 1
Glucagon levels in response to oral

1 1
glucose tolerance test (fasting)
Glucocorticoid-induced osteonecrosis
1 1
(time dependent analysis)
Glycemic traits (multi-trait analysis) 1 1
Gondoic acid (20:1n-9) levels 1 1
HDL cholesterol and triglyceride levels

1 1
(pleiotropy)
HDL cholesterol change in response to
fenofibrate in statin-treated type 2 1 1
diabetes
Height adjusted BMI 1 1
Helicobacter pylori serologic status 1 1
Hepatitis B virus-related hepatocellular

1 1
carcinoma
Hepatitis C induced liver fibrosis 1 1
High chromosomal aberration frequency

(chromosome type) in genotoxic 1 1
compound exposure
HIV progression (CD4 and viral load) 1 1
HIV-1 progression 1 1
Hoarding 1 1
Homeostasis model assessment of

1 1
insulin resistance in less-fat diet
Huntington's disease (age at onset) 1 1
Hypertension risk in short sleep duration 1 1

Immune reponse to smallpox (secreted
1 1
TNF-alpha)
Incident atrial fibrillation 1 1
Inferior temporal gyrus volume 1 1
Insulin levels adjusted for BMI 1 1
Insulinogenic index 1 1
Intertrochanteric region size 1 1
Intraocular pressure and central corneal

1 1
thickness (multi-trait analysis)
Iris characteristics 1 1
Job-related exhaustion in shift workers 1 1
Juvenile osteochondritis dissecans 1 1

KANNO antigen negativity 1 0
Kidney disease (end stage renal disease
vs non-end stage renal disease) in type 1 1 1
diabetes
Knee pain 1 1
L-arginine levels 1 1
Lack of premeditation 1 1
Language impairment in frontotemporal
1 1
lobe dementia
Lateral orbital frontal cortex volume 1 1
LDL (oxidized) 1 0
LDL cholesterol levels x long total sleep

1 1
time interaction (1df test)
Left ventricular mass 1 1

Lipid or lipoprotein levels 1 1
Liver fibrosis in pediatric non-alcoholic

1 1
fatty acid liver disease
Local histogram emphysema pattern 1 1
Longevity (age >90th survival

1 1
percentile)
Lung cancer (smoking interaction) 1 1
Lung function in heavy smokers (low

1 1
FEV1 vs high FEV1)
Macular telangiectasia type 2 1 1
Male sexual orientation 1 1
Matrix metalloproteinase levels 1 1

Mean diameter of HDL particles 1 1
Medial orbital frontal cortex volume 1 1
Menarche and menopause (age at onset) 1 1
Meningococcal C IgG concentrations

1 0
post childhood immunization

1 1
(edema)
Metabolic syndrome (multivariate

1 1
analysis)
Metabolite risk score for predicting
1 1
weight gain
Methamphetamine dependence 1 1
Methotrexate-induced interstitial lung
1 1
disease in rheumatoid arthritis
Modic changes 1 1
Morphine dose requirement in
tonsillectomy and adenoidectomy 1 1
surgery
Multiple sclerosis and body mass index
1 0
(pleiotropy)
Multiple sclerosis and triglyceride levels
1 1
(pleiotropy)
Myocardial infarction in darapladib-
treated cardiovascular disease (time to 1 1
event)
Neonatal cytokine/chemokine levels
1 1
(maternal genetic effect)
Nephrotic syndrome (acquired) 1 1
Neurocognitive impairment in HIV-1
1 1
infection (dichotomous)
Numerical cognitive ability 1 1
Opioid requirements during
1 1
laparoscopic-assisted colectomy
Optic disc parameters 1 1
Osteoarthritis of the hip (hospital
1 1
diagnosed)
Osteoarthritis of the hip or knee (with
1 0
total joint replacement)
Osteoarthritis of the knee (hospital
1 1
diagnosed)
Overweight status 1 1
Parkinson's disease (age of onset) 1 1
Parkinson's disease (familial) 1 1
Pars orbitalis volume 1 1
Pediatric non-alcoholic fatty liver
1 1
disease activity score
Pediatric nonalcoholic steatohepatitis 1 1
Percent glycated albumin 1 1
perceptual and visual search speed (trail
1 0
making test A) (age interaction)
Personality traits in bipolar disorder 1 1
Placebo response in major depressive
1 1
disorder (% change in symptom score)
Plasma clozapine levels in treatment-
1 0
resistant schizophrenia
Plasma homocysteine levels (post-
1 1
methionine load test)
Plasma lactate levels 1 1
Plasma renin activity levels 1 1
Pneumococcal meningitis 1 1
Pneumoconiosis in silica exposure 1 1
Poor prognosis in Crohn's disease 1 1
Pre bronchodilator FEV1/FVC ratio in
1 1
never-smokers
Predicted suicide risk 1 1
Progression free survival in metastatic
colorectal cancer (CAPOX-B vs 1 1
CAPOX-B plus cetuximab)
Proteinuria (mild) 1 1
Proteinuria (moderate to severe) 1 1
Psychosis proneness (hypomanic
personality scale and revised social 1 1
anhedonia scale)
Pulmonary emphysema 1 1
Pulse pressure (alcohol consumption
1 1
interaction)
QRS complex (Sokolow-Lyon) 1 1
QT interval (tricyclic/tetracyclic
1 0
antidepressant use interaction)
Rapid functional decline in sporadic
1 1
amyotrophic lateral sclerosis
Recalcitrant atopic dermatitis 1 1
Relapse in multiple sclerosis 1 0
Renal overload gout 1 1
Renal underexcretion gout 1 1
Response to acetaminophen
1 1
(hepatotoxicity)
Response to antidepressant treatment
1 1
(citalopram)
Response to carboplatin in ovarian
1 0
cancer (MTT IC50)
Response to haloperidol in psychosis 1 1
Response to intravenous
immunoglobulin treatment in Kawasaki 1 0
disease
Response to mepolizumab in severe
1 1
asthma
Response to methotrexate in rheumatoid
1 1
arthritis
1 1
(rapamycin)
Response to SSRI in MDD or openness 1 1

Response to temozolomide 1 0
Response to TNF inhibitor in
rheumatoid arthritis (change in disease 1 1
activity score)
Sarcoidosis (Lofgren's syndrome) 1 1
Schizophrenia or bipolar disorder 1 1
Self-reported childhood asthma in adult
1 1
smokers
Serum alpha1-antitrypsin levels 1 1
Serum creatinine levels 1 1
Serum sulfate level 1 1
Serum VEGFR2 concentration 1 1
Severe depressive disorders in coronary
1 1
artery disease
Severe skin toxicity response to
1 1
cetuximab in colorectal cancer
Sphingomyelin levels 1 1
Spontaneous preterm birth (preterm
1 1
delivery)
Stroke (ischemic) 1 1
Survival in breast cancer (estrogen-
1 1
receptor positive)
Sweet beverage consumption 1 1
Systolic blood pressure change
1 1
trajectories
Systolic blood pressure night-to-day
1 1
ratio in hypertension
Tacrolimus trough concentration in
1 1
kidney transplant patients
Theory of mind score in adolescence
1 1
(Emotional Triangles Task)
Thiopurine-induced digestive symptoms

1 1
in inflammatory bowel disease
Thrombin generation potential

1 1
phenotypes
Thrombomodulin levels in ischemic
1 1
stroke
Thyroid peroxidase antibody levels 1 1
Total body bone mineral density (age 0-
1 1
15)
Total cholesterol levels in HDL 1 1
Total glycated albumin levels 1 1
Total triglycerides levels 1 1
prostate cancer (increased urinary 1 1
frequency) (time to event)
Triglycerides-Blood Pressure (TG-BP) 1 1
Two-hour glucose challenge 1 1
Uric acid clearance 1 1
Urinary albumin-to-creatinine ratio in
1 1
diabetes
Urinary bladder cancer 1 1
Urinary potassium to creatinine ratio 1 1
Uveal melanoma with any chromosomal
1 1
aberration
Verbal memory performance
1 1
(residualized delayed recall level)
Vitamin D insufficiency 1 1
Vitamin D levels (dietary vitamin D
1 1
intake interaction)
Vitiligo (non-segmental) 1 1
Waist Circumference - Triglycerides
1 1
(WC-TG)
Waist circumference and related
1 1
phenotypes
Waist-to-hip circumference ratio (ever
1 1
vs never smoking interaction)
White matter microstructure in first
episode schizophrenia (left anterior 1 0
cingulate cortex)
Whole-brain volume (Alzheimer's
1 1
disease interaction)
su
ple
ment
own, divided per gene subset as stated in Materials and Methods. The trait's names are stated as in their GW
words "mineral density"). Following the trait's name there's the number of apperances of the trait in the cor
dom genes from the GWAS catalog equal to the number of genes in the corresponding gene subset and che
ribution values).
2 ≤ GERP < 4
Height 59 57
Adolescent idiopathic scoliosis 27 26
Mean corpuscular hemoglobin 23 21
Ulcerative colitis 18 11
Lung function (FVC) 16 16

Red cell distribution width 16 16
HDL cholesterol 15 12
Chronotype 13 13
Mean corpuscular volume 10 10
Triglycerides 10 8
Birth weight 9 8
IgG glycosylation 9 9
Major depressive disorder 9 9
Waist circumference adjusted for body

9 8
mass index
Daytime sleep phenotypes 8 7
Hip circumference adjusted for BMI 8 7
Medication use (thyroid preparations) 8 5
Parkinson's disease 8 8

Blond vs. brown/black hair color 7 6
High light scatter reticulocyte

7 6
percentage of red cells
Hypothyroidism 7 6
Low density lipoprotein cholesterol

7 6
levels
Lymphocyte counts 7 6
Psoriasis 7 6
Celiac disease 6 5
Hand grip 6 5
High light scatter reticulocyte count 6 6
Parkinson's disease or first degree

relation to individual with Parkinson's 6 4
disease
Acne (severe) 5 5
Bitter alcoholic beverage consumption 5 4

Cholesterol, total 5 5
Fat-free mass 5 5
Lung function (FEV1) 5 4
Lymphocyte percentage of white cells 5 5
Medication use (drugs used in

5 3
diabetes)
Menopause (age at onset) 5 4
Peak expiratory flow 5 5

5 4
Pneumonia 5 3
Sleep duration (short sleep) 5 3
Chronic lymphocytic leukemia 4 3
Cognitive decline rate in late mild

4 4
4 4
population controls
Extremely high intelligence 4 3
Formal thought disorder in
4 1
schizophrenia
LDL cholesterol levels in current

4 3
drinkers

consumption (drinkers vs non- 4 4
Lumbar spine bone mineral density 4 4
Medication use (HMG CoA reductase

4 4
inhibitors)
Narcolepsy 4 2
Osteoarthritis 4 4
QRS duration 4 4
Stroke 4 4
Tourette syndrome 4 4

Velopharyngeal dysfunction 4 3

(joint analysis main effects and 4 4
smoking interaction)
4 2
(additive genetic model)
Waist-to-hip ratio adjusted for body
4 4
mass index
White blood cell count (basophil) 4 4

3 2
score)
Alcohol use disorder (total score) 3 2
Calcium levels 3 3
Cerebrospinal fluid AB1-42 levels 3 3

Chin dimples 3 3
Circulating vasoactive peptide levels 3 1
Clostridium difficile infection in

3 2
multiple myeloma

Erosive tooth wear (severe vs non-

3 3
severe)
Glaucoma (primary open-angle) 3 3
Hair greying 3 2
HDL cholesterol levels x long total

3 3
HDL cholesterol levels x short total
3 3
Lipid metabolism phenotypes 3 2
Logical memory (delayed recall) in

3 1
mild cognitive impairment
Metabolic syndrome 3 3
Metabolite levels (lipoprotein

3 2
measures)
3 2
protein measures)
Microalbuminuria 3 3
Migraine - clinic-based 3 2
Molar-incisor hypomineralization 3 1
Mononucleosis 3 2
Multiple myeloma 3 3
Myopia (pathological) 3 3

3 2
levels
Prostate-specific antigen levels 3 3
Pulmonary function (smoking

3 3
interaction)

Recurrent major depressive disorder 3 2
Regular attendance at a pub or social

3 2
club
Regular attendance at a religious group 3 3
Response to (pegylated) interferon in

3 1
HBeAg-negative hepatitis B
Response to fenofibrate (adiponectin

3 1
levels)
Response to statin therapy 3 3
Rheumatoid arthritis (ACPA-positive) 3 3
Social communication problems 3 2
Triglyceride levels in current drinkers 3 3

consumption (drinkers vs non- 3 3

3 3

3 3
in non-smokers
3 3
6-month creatinine clearance change

response to tenofovir treatment in HIV 2 2
infection (treatment arm interaction)
Activated partial thromboplastin time 2 2
Acute lymphoblastic leukemia

2 2
(childhood)

(neutropenia/leucopenia) (all 2 1
antimicrotubule drugs)
2 2
muscular dystrophy
Age-related disease endophenotypes 2 2
Age-related diseases, mortality and

2 2
associated endophenotypes
Alcohol consumption in current
2 1
drinkers
Aluminium levels 2 1
Alzheimer's disease or HDL levels
2 2
(pleiotropy)
Anthropometric traits 2 2

2 2
analysis)
Anti-saccade response 2 2
Antineutrophil cytoplasmic antibody-
2 2
associated vasculitis
Automobile speeding propensity 2 2

2 1
disorder
Bladder cancer 2 2
Blood metabolite ratios 2 2
Blood osmolality (transformed

2 2
sodium)
Brain connectivity 2 1
Breast cancer specific mortality in
estrogen receptor positive breast 2 1
cancer
Breastfeeding duration 2 1
Bronchopulmonary dysplasia 2 2

dimethylxanthine (paraxanthine) to
2 1
1,3,7-trimethylxanthine (caffeine)
ratio)
Cardiovascular disease risk factors 2 1
Cerebral amyloid deposition in

2 2
APOEe4 non-carriers (PET imaging)
Chronic obstructive pulmonary

2 2
disease-related biomarkers

2 1
interaction)
Colorectal cancer (diet interaction) 2 1
Copper levels 2 2
Cotinine glucuronidation 2 1
Creatine kinase levels 2 2
Dehydroepiandrosterone sulphate
2 1
levels
Delta-5 desaturase activity 2 1
Depressive and manic episodes in

2 1
bipolar disorder
Depressive episodes in bipolar

2 1
disorder
Depressive symptoms (binary sum-
2 1
score)
Eosinophilic esophagitis 2 2
Eotaxin levels 2 2
Exploratory eye movement
dysfunction in schizophrenia 2 2
(responsive search score)
Extrinsic epigenetic age acceleration 2 1
Facial emotion recognition (fearful

2 1
faces)
Factor VII activity 2 2

Fasting blood glucose (BMI
2 2
interaction)
Gastroesophageal reflux disease 2 2
Glycine levels 2 2

2 2
Hypertriglyceridemia 2 2
Hypospadias 2 2
Idiopathic membranous nephropathy 2 1
Immune response to smallpox vaccine

2 2
(IL-6)
Infant length 2 1
Interleukin-1-receptor antagonist
2 2
levels
Joint mobility (Beighton score) 2 2
Keloid 2 1
LDL cholesterol x physical activity

2 2
Limited cutaneous systemic
2 1
scleroderma
2 1
A2 activity and mass
Macrophage inflammatory protein 1a

2 2
levels
Malaria 2 1
Manganese levels 2 2

2 1
lobe dementia
Mercury levels 2 1
Migraine without aura 2 2
Monoclonal gammopathy of
2 2
undetermined significance
Mucinous adenocarcinoma in
2 1
colorectal cancer
Normal facial asymmetry (angle of

2 1
surface orientation score)

Oral cavity and pharyngeal cancer 2 1

2 1
Periodontitis (Mean PAL) 2 2
Phospholipid levels in large HDL 2 1
Plasma amyloid beta peptide

2 1
concentrations (ABx-42)
Plasma factor VII activating protease

2 2
levels

2 2
acid levels (docosapentaenoic acid)

2 2
acid levels (linoleic acid)
Primary biliary cirrhosis 2 2

2 1
no DR)
Renal cell carcinoma 2 2

in FEV1)
Response to quetiapine in
2 1
schizophrenia
Response to simvastatin treatment
2 1
(PCSK9 protein level change)
Restless legs syndrome 2 2
Scarlet fever 2 2
Schizophrenia, bipolar disorder and

2 1
depression (combined)

2 2
Severe influenza A (H1N1) infection 2 2
Spontaneous preterm birth without

2 2
premature rupture of membranes
Stem cell growth factor beta levels 2 2

2 2
levels
Survival in pancreatic cancer 2 2
Thyrotoxic hypokalemic periodic

2 1
paralysis and Graves disease
Triglyceride levels x long total sleep

2 2
time interaction (2df test)
Triglycerides x physical activity

2 1
Type 2 diabetes (adjusted for BMI) 2 2
Urate levels in lean individuals 2 2
Vertical cup-disc ratio 2 2
Accelerometer-based physical activity

1 1
measurement (average acceleration)

marrow transplantation (recipient 1 1
effect)
Adiponectin levels (BMI-adjusted) 1 1
Adiponectin levels in pregnancy 1 1

1 1
(neutropenia/leucopenia) (etoposide)

(neutropenia/leucopenia) (paclitaxel + 1 1
carboplatin)

1 1
Age-related cataracts (age at onset) 1 1
Age-related cognitive decline

1 1
(memory) (slope of z-scores)

1 1
Airway wall thickness 1 1
Alcohol consumption over the past

1 1
year
Alzheimer's disease (age of onset) 1 1

Anger 1 1
Angiotensin-converting enzyme
1 0
activity
Anti-saccade error rate in psychotic

1 1
disorders
1 1
Anxiety/tension (special factor of

1 1
neuroticism)

Artificially sweetened beverage

1 1
consumption

1 1

1 1

B-cell malignancies (chronic
lymphocytic leukemia, Hodgkin
1 1
lymphoma or multiple myeloma)
(pleiotropy)
B-type natriuretic peptide levels 1 0
Behavioural changes in frontotemporal

1 1
lobe dementia
Binge eating behaviour and bipolar

1 1
disorder
Bipolar disorder with mood-

1 1
incongruent psychosis
Birth length 1 1
Blood pressure measurement (cold

1 1
pressor test)
Blood sugar levels 1 1
BMI at 1 year old 1 0
BMI at 1.5 years old 1 1

Body mass index (change over time)

1 1
in gastrointestinal cancer

in gastrointestinal cancer or chronic 1 0
Body mass index in non-asthmatics 1 1
Bone mineral density (paediatric,

1 1
lower limb)
Bone mineral density (paediatric, total

1 1
body less head)

1 1
upper limb)

1 1
(Isoleucine)

1 0
(Leucine)
1 1
(Valine)
BRCA1/2-negative high-risk breast
1 1
cancer
Breast cancer in childhood cancer
survivors treated with more than 10 1 0
gray radiotherapy
1 1
(infant genotype effect)

1 1
Broad depression or major depressive

1 1
disorder (self-reported)

interaction)

1 1
stroke
C-reactive protein levels or total

1 1
cholesterol levels (pleiotropy)

1 1
dimethylxanthine (paraxanthine) level)

1 1
dimethylxanthine (theobromine) level)
California verbal learning test score 1 1

Candidemia 1 1
Carboplatin disposition in epthelial

1 1
ovarian cancer
Cardiac troponin-I levels 1 1

1 1
traits
Carotid atherosclerosis in HIV

1 1
infection

1 0
Cerebrospinal fluid p-tau levels in
1 1

1 1

1 1
normal cognition
Chloride levels 1 1

1 1
(chromatid type)
Chronic bronchitis and chronic

1 1
1 0

1 1
(moderate to severe)
1 1
(severe)
Circulating chromogranin peptide
1 0
levels
circulating leptin levels adjusted for

1 1
BMI

1 1
Clozapine-induced
agranulocytosis/granulocytopenia in 1 1
treatment-resistant schizophrenia

1 1

1 1
stroke
Coronary atherosclerosis (increased

number of diseased vessels) (traffic 1 1
exposure interaction)
Corpus callosum central volume 1 1

1 1
Cortical amyloid beta load 1 1
Creutzfeldt-Jakob disease 1 1
Creutzfeldt-Jakob disease (sporadic) 1 0
Creutzfeldt-Jakob disease (variant) 1 1
Cutaneous lupus erythematosus 1 1
Degraded stimulus continuous

1 1
performance test score
Dengue shock syndrome 1 0
Dental caries (decayed and filled

1 1
deciduous tooth surfaces)
Depressive symptom (depressed

1 0
mood) (binary trait)
DHEAS levels 1 0
Diabetes in response to
antihypertensive drug treatment 1 1
(treatment strategy interaction)
Diabetic retinopathy (all NPDR and

1 1
PDR)
Diabetic retinopathy in type 2 diabetes 1 1
DNA methylation (variation) 1 1
Early cardiac repolarization 1 1

Ejection fraction in Tripanosoma cruzi
1 1
seropositivity
1 1
measures

1 1
antigen levels
Endometrial cancer (Non-

1 1
endometrioid histology)
Epstein Barr virus nuclear antigen 1

1 1
IgG levels or multiple sclerosis
Estimated glomerular filtration rate

after 1 year in renal transplantation 1 1
(donor effect)
Estimated glomerular filtration rate
after 5 years in renal transplantation 1 1
(donor effect)

(cognitive search score)

dysfunction in schizophrenia (mean 1 0
eye scanning length)
dysfunction in schizophrenia (number 1 1
of eye fixations)
Eye morphology 1 1
Facial morphology (factor 1, breadth

1 1
of lateral portion of upper face)
Facial morphology (factor 13, vertical
position of alar curvature relative to 1 1
upper lip)
Facial morphology (factor 2, vertical
1 1
position of orbits relative to midface)
Facial morphology (factor 22) 1 1

gnathion)
nasion)

1 1
Fasting blood glucose adjusted for
1 1
BMI
Fasting blood insulin adjusted for BMI 1 1

Food addiction 1 1
Forced expiratory volume in 1 second

(occupational environmental 1 1
exposures interaction)
Fourth ventricle volume 1 1

1 1
(childhood)
Frontotemporal dementia (age at

1 1
onset)
Frontotemporal dementia with GRN

1 1
mutation (age at onset)
Fuchs's corneal dystrophy 1 1

1 1

1 1
Glaucoma (high intraocular pressure) 1 1

Glioblastoma 1 1
Glycemic traits (multi-trait analysis) 1 0

Glycemic traits (pregnancy) 1 1
HDL cholesterol and triglyceride

1 1
levels (pleiotropy)
HDL cholesterol change in response to
diabetes
Heart rate variability traits 1 1
Height adjusted BMI 1 0
High IL-1beta levels in gingival

1 1
crevicular fluid
Hip circumference variance 1 1

Hippocampal volume in mild
1 1
HIV-1 progression 1 0
HIV-associated neurocognitive
1 1
disorder
disorder (mild neurocognitive disorder
1 1
or asymptomatic neurocognitive
impairment)
Hoarding 1 1

beta-cell function (dietary factor 1 1
interaction)

1 0
insulin resistance in less-fat diet
Hormone measurements 1 1
IgE levels in asthmatics 1 1
Immune reponse to smallpox (secreted

1 1
TNF-alpha)
Immune response to measles-mumps-
1 1
rubella vaccine
Inferior temporal gyrus volume 1 1
Inguinal hernia 1 1
Initial pursuit acceleration in psychotic

1 1
disorders
Insular cortex volume 1 1
Insulin levels in response to oral

1 0
glucose tolerance test (30 minutes)
Insulin-like growth factors 1 1
Invasive epithelial ovarian cancer 1 1
Iron status biomarkers (ferritin levels) 1 1

Juvenile osteochondritis dissecans 1 1
KANNO antigen negativity 1 0
Knee pain 1 0
Lack of premeditation 1 1
Large HDL particle concentration 1 1
Lateral orbital frontal cortex volume 1 1
LDL (oxidized) 1 0
LDL peak particle diameter (total fat

1 1
intake interaction)
Leukocyte telomere length 1 1

Lewy body disease 1 1
A2 activity change in response to 1 1
statin therapy
1 1
transaminase)
1 1
phosphatase)
Liver fibrosis in non-alcoholic fatty
1 1
acid liver disease
Logical memory (immediate recall) in
1 1
Longevity (age >90th survival

1 1
percentile)
Low high density lipoprotein
1 1
cholesterol levels
Lung function in heavy smokers (low

1 1
FEV1 vs high FEV1)
Major depressive disorder (probable) 1 1
Mean diameter of HDL particles 1 1
Medial orbital frontal cortex volume 1 1
Medication use (antimigraine

1 1
preparations)

1 1
derivatives)
Menarche and menopause (age at
1 1
onset)
Meningococcal C IgG concentrations
1 0
post childhood immunization

1 1
(dysmenorrhea)
Metabolic syndrome (multivariate

1 1
analysis)

1 0

1 1
Molybdenum levels 1 1
Mortality in heart failure 1 1
Mortality in sepsis 1 1
Multiple sclerosis and triglyceride

1 1
levels (pleiotropy)
Myocardial infarction in darapladib-
treated cardiovascular disease (time to 1 1
event)

Nephrotic syndrome (acquired) 1 0
Nodular sclerosis Hodgkin lymphoma 1 1

1 1
histology (lobular)
Nonsyndromic cleft palate 1 1
Obese vs. thin 1 1
1 1
Obstetric antiphospholipid syndrome 1 1
Obstructive sleep apnea trait (average

1 1
respiratory event duration)
Optic disc parameters 1 1

Optic nerve measurement (cup-to-disc
1 1
ratio)
Oropharynx cancer 1 1
Osteoarthritis of the hip (hospital

1 1
diagnosed)
P wave duration 1 1
Paget's disease 1 1
Palmitic acid (16:0) levels 1 1
Panic disorder 1 1
Parkinson's disease (age of onset) 1 1
Parkinson's disease (familial) 1 0
Pars orbitalis volume 1 1
Peginterferon alfa-2a treatment

response in chronic hepatitis B 1 1
infection
Periodontitis (DPAL) 1 1
Personality traits in bipolar disorder 1 1
Plasma anastrozole concentration in

anastrozole-treated estrogen receptor 1 1
positive breast cancer
Plasma clusterin levels 1 1

1 1
acid levels (docosahexaenoic acid)

1 0
Pneumococcal meningitis 1 1

1 1
for relatedness)
1 1
Alzheimer's disease

1 1
high fat diet meal
Pre bronchodilator FEV1/FVC ratio in

1 1
never-smokers
Predicted suicide risk 1 1
Preeclampsia 1 1
1 1
cancer survivors
Prion diseases 1 1

1 1
NPDR and no DR)
Prothrombin time 1 1
Psychosis proneness (hypomanic
personality scale and revised social 1 1
anhedonia scale)
QT interval (drug interaction) 1 1
QT interval (sulfonylurea treatment

1 1
interaction)
QT interval (tricyclic/tetracyclic
1 0
antidepressant use interaction)
Rapid automised naming of pictures 1 1
Reading disability or specific language

1 1
impairment (pleiotropy)
Reading disability or specific language
impairment adjusted for intelligence 1 1
quotient (pleiotropy)
Relative hand skill 1 1
Remission after SSRI treatment in

1 1
MDD or openness
Renal function-related traits (BUN) 1 1
Response to antidepressant treatment

1 0
(citalopram)
Response to antineoplastic agents 1 1
Response to antipsychotic therapy

1 1
(extrapyramidal side effects)
Response to carboplatin in ovarian

1 0
cancer (MTT IC50)
Response to chemotherapy in breast

cancer hypertensive cases (cumulative 1 1
dose) (bevacizumab)
Response to cytidine analogues
1 1
(gemcitabine)
Response to fenofibrate (total
1 1
cholesterol levels)
1 1
levels)
Response to haloperidol in psychosis 1 0
1 1
schizophrenia
Response to mepolizumab in severe

1 0
asthma

1 1
(everolimus)
1 1

1 1
Response to selective serotonin

1 1
reuptake inhibitors and depression
Response to selective serotonin
1 1
reuptake inhibitors in depression
Response to serotonin reuptake

inhibitors in major depressive disorder 1 1
(plasma drug and metabolite levels)
Response to SSRI in MDD or
1 1
openness
rheumatoid arthritis (change in disease 1 0
activity score)
rheumatoid arthritis (change in tender 1 1
28-joint count)
Response to tocilizumab in rheumatoid

1 1
arthritis
Resting metabolic rate 1 1
Sarcoidosis (Lofgren's syndrome) 1 0
Sarcoidosis (non-Lofgren's syndrome

without extrapulmonary 1 1
manifestations)
Scalp hair shape 1 1
Select biomarker traits 1 1
Self-reported childhood asthma in

1 1
adult smokers
Serum alpha1-antitrypsin levels 1 1

syndrome
Serum dimethylarginine levels
1 1
(asymmetric/symetric ratio)
Serum metabolite ratios in chronic
1 1
kidney disease
Severe depressive disorders in

1 1
coronary artery disease
Sex hormone levels 1 1
Sight-threatening diabetic retinopathy

1 1
in type 2 diabetes
Sphingolipid levels 1 1
Sphingomyelin levels 1 1
Staphylococcus aureus infection 1 1
1 1
(intermittent)
1 1
(persistent)
Subclinical atherosclerosis traits

1 1
(other)
Subjective response to lithium
1 1
treatment in bipolar disorder
1 1
Systemising 1 1
Systolic blood pressure night-to-day

1 0
ratio in hypertension
Systolic blood pressure x smoking

status (current vs non-current) 1 1
Tacrolimus trough concentration in
1 1
kidney transplant patients
TB-LM or TBLH-BMD (pleiotropy) 1 1
Temperament (bipolar disorder) 1 1
Thiopurine S-methyltransferase
1 1
activity
Thrombin generation potential

1 0
phenotypes
Thrombin-activatable fibrinolysis
1 1
inhibitor levels
Tonometry 1 1

1 1
0-15)
1 1
45-60)

1 1
over 60)
Total cholesterol levels in HDL 1 1

prostate cancer (decreased urine 1 1
stream) (time to event)
event)
Triglycerides-Blood Pressure (TG-BP) 1 1

Upper eyelid morphology 1 1
Uric acid clearance 1 1

1 1
diabetes
1 1
non-diabetics
Urinary bladder cancer 1 1
Urolithiasis 1 1
Uveal melanoma with any

1 1
chromosomal aberration
Waist Circumference - Triglycerides

1 1
(WC-TG)

1 0
Waist circumference and related
1 1
phenotypes

1 1
White coat effect (clinic diastolic
blood pressure minus ambulatory 1 1
diastolic blood pressure)
White matter integrity (bipolar
1 1
disorder risk interaction)
White matter microstructure in first

episode schizophrenia (left anterior 1 0
cingulate cortex)

Whole-brain volume (Alzheimer's
1 1
disease interaction)
Working memory 1 1

1 1
diabetes
it's names are stated as in their GWAS catalog entry but in some cases a new category has been created to r
of apperances of the trait in the corresponding gene subset, and the Q95 value. This value indicates the quan
orresponding gene subset and checked the number of appearances of each trait in the new bootstrapped gen
4 ≤ GERP < 6
Height 69 52
Containing the words "mineral
39 34
density"
Heel bone mineral density 33 28
Systolic blood pressure 27 27
Schizophrenia 24 24

Type 2 diabetes 19 19
Lung function (FEV1/FVC) 17 16
Chronotype 15 13

DNA methylation variation (age
12 9
effect)
Hair color 12 10
Alcohol consumption (drinks per

9 5
week) (MTAG)
Medication use (calcium channel

8 4
blockers)
Reticulocyte fraction of red cells 8 6
Medication use (agents acting on the

7 6
renin-angiotensin system)
Acne (severe) 6 5
Age of smoking initiation (MTAG) 6 5
Granulocyte percentage of myeloid

6 6
white cells
Hypertension 6 5
Mosquito bite size 6 5
6 4
Psoriasis 6 6
Blood urea nitrogen levels 5 5

5 3
non-diabetics
Pneumonia 5 3
Positive affect 5 5
Tea consumption 5 3
Type 1 diabetes 5 5
Chin dimples 4 3
4 4
population controls
Coronary artery calcified

atherosclerotic plaque (130 HU 4 3
threshold) in type 2 diabetes
Diastolic blood pressure x smoking
Diastolic blood pressure x smoking

status (ever vs never) interaction (2df 4 3
test)
Gut microbiota (bacterial taxa) 4 3
Hodgkin's lymphoma 4 2
Immature fraction of reticulocytes 4 4
Mononucleosis 4 2
Optic disc size 4 4

Post bronchodilator FEV1 in COPD 4 3
Response to cognitive-behavioural
4 2
therapy in major depressive disorder
Resting heart rate 4 4
Risk-taking tendency (4-domain
4 4
principal component model)
Systolic blood pressure (cigarette
4 3


status (ever vs never) interaction (2df 4 3
test)
Urinary metabolites 4 2
Visceral adipose tissue adjusted for

4 3
BMI
Alopecia areata 3 3
Autism spectrum disorder, attention
deficit-hyperactivity disorder, bipolar
3 3
disorder, major depressive disorder,
and schizophrenia (combined)
Bipolar I disorder 3 3
Bipolar II disorder 3 1
Bone mineral density (Ward's triangle

3 1
area)

3 2
or resting heart rate (pleiotropy)

atherosclerotic plaque score in type 2 3 2
diabetes

3 2
diabetes
Estrone/androstenedione ratio in
resected early stage-receptor positive 3 1
breast cancer
Eyebrow thickness 3 2
Fibrinogen levels 3 3
Frontal fibrosing alopecia 3 2
Glomerular filtration rate (creatinine) 3 3

Mild influenza (H1N1) infection 3 2
Motion sickness 3 2
Plasma anti-thyroglobulin and anti-

thyroid peroxidase levels (bivariate 3 1
analysis)
Response to antipsychotic treatment 3 3

3 1
levels)
Skin pigmentation 3 2

3 1
levels
Trunk fat mass 3 3
Urinary albumin excretion 3 3
Urinary albumin-to-creatinine ratio 3 3
Venous thromboembolism adjusted for

3 3
sickle cell variant rs77121243-T
Visceral fat 3 3

3 3

(joint analysis main effects and 3 3
Acute anterior uveitis (with or without
2 1
ankylosing spondylitis)
Acute anterior uveitis in ankylosing
2 1
spondylitis
Acute lymphoblastic leukemia
2 2
(childhood)
Adult asthma 2 2

2 1

2 2
muscular dystrophy
Albumin-globulin ratio 2 2
Alzheimer's disease biomarkers 2 2
Amygdala volume 2 1
Ankle injury 2 2
Ankylosing spondylitis (SNP x SNP
2 1
interaction)
2 2
analysis)
Antipsychotic drug-induced QTc

2 2
interval change in schizophrenia
Arterial stiffness index 2 2

2 1
Betaine levels in individuals
2 0
undergoing cardiac evaluation
2 1
disorder
Birdshot chorioretinopathy 2 0
Brown vs. black hair color 2 2

2 1
Alzheimer's disease-related proteins
Cerebrospinal fluid p-tau levels 2 2

Cerebrospinal fluid t-tau levels 2 2
Cerebrospinal fluid t-tau:AB1-42 ratio 2 2
Cerebrospinal P-tau181p levels 2 2
Cerebrospinal T-tau levels 2 2
Circulating fibroblast growth factor 23

2 2
levels
Cleft lip with or without cleft palate
(maternal periconceptional vitamin use 2 1
interaction)
2 1
interaction)
Common carotid intima-media

2 1
thickness in HIV negative individuals
Coronary artery aneurysm in

2 1
Kawasaki disease

2 1
Dehydroepiandrosterone sulphate
2 1
levels
Diastolic blood pressure (cigarette

2 2
Ejection fraction 2 2
2 1
measures
Emotional lability in attention deficit

2 1

nasion)

2 1
Glomerular filtration rate in non

2 2
diabetics (creatinine)
Glycine levels 2 2
Gut microbiome composition

2 2
(summer)
Gut microbiota (alpha diversity) 2 2

2 2
Heart rate increase in response to

2 1
exercise
Heart rate response to exercise 2 2

2 1
exercise (20 sec)
2 1
exercise (30 sec)
2 1
exercise (40 sec)

2 2
exercise (50 sec)
Hemoglobin A1c levels 2 2

Hip geometry 2 1
IgG bisecting N-acetyl glucosamine

2 1
phenotypes (multivariate analysis)
IgG digalactosylation phenotypes
2 1
IgG disialylation phenotypes
2 1
IgG fucosylation phenotypes

2 1
IgG galactosylation phenotypes

2 1
IgG monogalactosylation phenotypes

2 1
IgG N-glycosylation phenotypes

2 1
IgG sialylation phenotypes
2 1
Immune response to smallpox vaccine
2 2
(IL-6)
Iron status biomarkers (total iron

2 2
binding capacity)
Juvenile idiopathic arthritis
(oligoarticular or rheumatoid factor- 2 2
negative polyarticular)
Left ventricular internal dimension in
2 1
systole
Lupus nephritis in systemic lupus

2 2
erythematosus
Major depression and alcohol
2 2
dependence
2 1
lobe dementia
2 1
(dysmenorrhea)

2 2
protein measures)
Neurofibrillary tangles 2 2

2 2
levels
Non-word reading 2 1
Nose morphology 2 2
Nose size 2 2
Optic cup area 2 2

Otitis media 2 1
Otitis media (chronic) 2 1
Otitis media (recurrent) 2 1
Parkinson disease and lewy body

2 1
pathology
Plasma anti-thyroglobulin levels 2 2
Plasminogen activator inhibitor type 1

2 1
levels (PAI-1)
Prion diseases 2 1

2 1
interaction)
Quantitative traits 2 2

in FEV1)
Response to paliperidone in
2 1
schizophrenia (Multivariate)
Response to platinum-based agents 2 1

2 1
Scarlet fever 2 2

syndrome
2 2
Serum tamsulosin hydrochloride
2 1
concentration
Serum thyroid-stimulating hormone
2 2
levels
Serum total protein level 2 2
Severity of nausea and vomiting of

2 1
pregnancy
Stress sensitivity (neuroticism score x

major depressive disorder status 2 1
interaction)
Systolic blood pressure x alcohol
consumption (light vs heavy) 2 2
TRAIL levels 2 2
Triglyceride change in response to

diabetes
Urate levels (BMI interaction) 2 2
Urinary albumin excretion (no

2 2
hypertensive medication)


1 0
marrow transplantation (donor effect)

marrow transplantation (recipient 1 1
effect)
Acylcarnitine levels 1 1

1 1
Adverse response to lamotrigine and
1 1
phenytoin
(attention/processing speed) (slope of 1 1
z-scores)
Age-related cognitive decline (global
1 1
cognition) (slope of z-scores)
1 1
Age-related nuclear cataracts 1 1
Alcohol consumption (max-drinks) 1 1

1 1
score)
1 0
consumption)
Alzheimer's disease in APOE e4+

1 1
carriers
Alzheimer's disease with no specific

1 1
cognitive domain impairment
Amino acid levels 1 1
Angiotensin-converting enzyme
1 0
activity

1 1
Aortic root size 1 1

1 1
Asthma and attention deficit
1 1
Atopic march 1 1
Attention deficit hyperactivity disorder

1 1
(time to onset)

1 1
symptom score
1 1
interaction)
Benign prostatic hyperplasia and lower

1 1
urinary tract symptoms
Benign prostatic hyperplasia and lower

urinary tract symptoms (prostate 1 1
cancer excluded)
Bipolar disorder or body mass index 1 1
1 1
Bitter non-alcoholic beverage

1 1
consumption
Blood and toenail selenium levels 1 1

Blood trace element (Cu levels) 1 1
Blood trace element (Se levels) 1 1
Body mass index (smoking years

1 1
interaction)

1 1
in lung cancer
Body mass index (SNP x SNP

1 1
interaction)
Body mass index in asthmatics 1 1

1 1
skull)
Brain volume in infants (cerebrospinal

1 1
fluid)
Brain volume in infants (grey matter) 1 1
Breast cancer and/or colorectal cancer 1 1

1 1
interaction)

1 0
stroke
Caffeine consumption 1 1

1 1
dimethylxanthine (theophylline) level)
Caffeine metabolism (plasma 1,3,7-

1 1
trimethylxanthine (caffeine) level)

dimethylxanthine (paraxanthine) to
1 1
1,3,7-trimethylxanthine (caffeine)
ratio)
Candidemia 1 1

1 1
traits
1 0
Caudal middle frontal gyrus volume 1 1
Cephalic index 1 1
Cerebellum cortex volume 1 1
Cerebrospinal fluid t-tau levels in mild

1 1
Change in serum metabolite levels

1 1
(CMS)
Cholangiocarcinoma in primary
1 1
sclerosing cholangitis (time to event)

1 1
(chromatid type)

1 0

1 1
or coronary artery disease (pleiotropy)
Circulating myeloperoxidase levels

1 1
(serum)

1 0
Cobalt levels 1 1
Cognitive performance (processing

1 1
speed)
Colorectal cancer (alcohol

1 0
consumption interaction)
Colorectal cancer (SNP x SNP

1 1
interaction)

1 1

1 1
stroke
Crohn's disease (indolent vs

1 1
progressive)
D-dimer levels 1 1
Daytime nap 1 1
Degraded stimulus continuous

1 1
performance test score
Dental caries (decayed and filled
1 1
deciduous tooth surfaces)
Depression in response to interferon-

1 1
based therapy in chronic hepatitis C
Depressive symptom improvement 1 1
antihypertensive drug treatment 1 1
(treatment strategy interaction)

1 1

Dimensional psychopathology
1 1
(Cognitive)
Disrupted circadian rhythm (low
relative amplitude of rest-activity 1 1
cycles)
Early childhood aggressive behavior 1 0
Eating disorders (purging via

1 1
substances)
Egg allergy 1 1

1 1
seropositivity

1 1
antigen levels
Emphysema-related traits 1 1
Endometrial cancer (Non-

1 1
endometrioid histology)
Entorhinal cortical volume 1 0
Eosinophilic esophagitis (pediatric) 1 1
Epigenetic age acceleration in alcohol

1 1
use disorder
Epstein Barr virus nuclear antigen 1

1 1
IgG levels or multiple sclerosis
Essential tremor 1 1
Exhaled carbon monoxide levels in

smokers with chronic obstructive 1 1
pulmonary disease
dysfunction in schizophrenia (number 1 1
of eye fixations)

gnathion)
Facial morphology (factor 5, width of

1 1
mouth relative to central midface)
Facial morphology (factor 6, height of

1 1
vermillion lower lip)
Facial morphology traits (63 three-

1 1
dimensional facial segments)
1 1
Fat distribution (HIV) 1 1

1 1
(childhood)
Fractional shortening 1 1

1 1
Gastritis 1 1
Gemcitabine-induced early high-grade
1 1
neutropenia in pancreatic cancer
Gestational age at birth (child effect) 1 1
Gestational age at birth in labor-

1 1
initiated deliveries (child effect)
1 1
Glucagon levels in response to oral

1 0
glucose tolerance test (fasting)
1 1
(age 10 years and older)
1 0
(time dependent analysis)
Granulocyte-colony stimulating factor

1 1
levels

1 1
exercise (10 sec)
Heart rate variability traits (RMSSD) 1 1
Heart rate variability traits (SDNN) 1 1
Hepatitis B virus-related
1 0
High chromosomal aberration
frequency (chromosome type) in 1 1
genotoxic compound exposure
Hip bone size 1 1
Hippocampal sclerosis 1 1
Hippocampal volume in mild

1 1
1 1
disorder
disorder (mild neurocognitive disorder
1 1
or asymptomatic neurocognitive
impairment)
Homocysteine levels 1 1
Hyperopia 1 1
Hypertension (SNP x SNP interaction) 1 1
Hypertension risk in short sleep

1 0
duration
Hyperuricemia 1 1

IgG glycosylation patterns 1 1
IgM levels 1 1
Inguinal hernia 1 1
Initial pursuit acceleration in psychotic

1 1
disorders
Insulin levels adjusted for BMI 1 1
Insulin levels in response to oral

1 0
glucose tolerance test (30 minutes)
Interleukin-2 receptor antagonist levels 1 1

Intertrochanteric region size 1 1
Intracranial volume 1 1
Intraocular pressure and central

1 1
corneal thickness (multi-trait analysis)
Iron status biomarkers (ferritin levels) 1 1
Kidney disease (end stage renal

disease vs non-end stage renal disease) 1 0
in type 1 diabetes
Language impairment in
1 0
frontotemporal lobe dementia
Late-onset myasthenia gravis 1 1
LDL cholesterol levels x long total

1 0
Left ventricular mass 1 0
Left ventricular obstructive tract defect

1 1
(inherited effect)
Lentiform nucleus volume 1 1
Lipid traits (pleiotropy) (HIPO

1 1
component 2)
Lipoprotein (a) - cholesterol levels 1 1
Lipoprotein phospholipase A2 activity

1 1
in cardiovascular disease

1 1
transaminase)

1 1
phosphatase)
Liver fibrosis in pediatric non-
1 1
alcoholic fatty acid liver disease

Logical memory (delayed recall) in
1 1
Low high density lipoprotein

1 1
cholesterol levels
Lumbar spine bone mineral density

1 1
(trabecular)
Lung cancer (smoking interaction) 1 1

Lung function (low FEV1 vs high
1 1
FEV1) x smoking interaction
Macrophage colony stimulating factor
1 1
levels
Macular telangiectasia type 2 1 1
Male sexual orientation 1 0
Maximum cranial width 1 1

1 1
derivatives)
1 1
(acne)

1 0
(edema)
Metabolite levels (Dihydroxy

1 1
docosatrienoic acid)
Methotrexate phramacokinetics (acute

1 1
lymphoblastic leukemia)
Methotrexate-induced interstitial lung
1 1
disease in rheumatoid arthritis
1 0
1 1
Milk allergy 1 1
Morphine dose requirement in

tonsillectomy and adenoidectomy 1 0
surgery
Multiple myeloma (IgH translocation) 1 1
Multiple sclerosis (age of onset) 1 1
Multiple sclerosis and body mass

1 0
index (pleiotropy)
Myocardial infarction (early onset) 1 1
N-glycan levels 1 1
Neonatal lupus 1 1
Neurocognitive impairment in HIV-1

1 1
infection (dichotomous)

1 1
histology (lobular)
Nonsyndromic cleft lip with or without

1 1
cleft palate
Obesity (early onset extreme) 1 1
1 1
Obstructive sleep apnea trait (apnea

1 1
hypopnea index, change over time)

1 1
Osteoarthritis of the hip or knee (with

1 0
total joint replacement)
Osteoarthritis of the knee (hospital

1 1
diagnosed)
Osteolysis in total hip arthroplasty

1 1
(time to prosthesis revision)
Paget's disease 1 1
Pancreatic ductal adenocarcinoma 1 1
Paneth cell defects in Crohn's disease 1 1
Panic disorder 1 1
Pediatric bone mineral content (radius) 1 1
Pediatric non-alcoholic fatty liver

1 1

Peginterferon alfa-2a treatment
response in chronic hepatitis B 1 1
infection
perceptual and visual search speed

1 0
(trail making test A) (age interaction)
Phenylephrine infusion rate during

1 1
anesthesia
Placebo response in major depressive

1 1
disorder (% change in symptom score)
Plasma clozapine levels in treatment-

1 0
resistant schizophrenia
Plasma free amino acid levels

1 1
(adjusted for one other PFAA)
Plasma homocysteine levels (post-

1 1
methionine load test)

1 0
Positive urgency 1 1
1 1
for relatedness)

1 1
high fat diet meal
PR segment 1 1

1 1
cancer survivors
Presence of antiphospholipid
1 1
antibodies
Primary tooth development (number of

1 1
teeth)
Primary tooth development (time to

1 1
first tooth eruption)
Progressive supranuclear palsy 1 1

1 1
NPDR and no DR)
Prostate-specific antigen levels
1 1
(conditioned on lead SNPs)
Pulse pressure (alcohol consumption

1 1
interaction)
Pulse pressure x alcohol consumption

1 1
(light vs heavy) interaction (2df test)
QT interval (drug interaction) 1 1

1 1
Remission after SSRI treatment in

1 1
MDD or openness
Response to abacavir-containing
treatment in HIV-1 infection (virologic 1 1
failure)
Response to acetaminophen
1 1
(hepatotoxicity)
Response to alcohol consumption
1 1
(flushing response)
Response to anti-retroviral therapy
(ddI/d4T) in HIV-1 infection (Grade 1 1 1
peripheral neuropathy)
Response to anti-retroviral therapy
(ddI/d4T) in HIV-1 infection (Grade 2 1 1
peripheral neuropathy)
Response to cyclophosphamide in
systemic lupus erythematosus with 1 1
lupus nephritis
1 1
schizophrenia
Response to lurasidone in
1 1
schizophrenia
Response to methotrexate in
1 0

1 1
(everolimus)
Response to statins (LDL cholesterol
1 1
change)
Response to taxane treatment
1 1
(placlitaxel)
Response to tocilizumab in rheumatoid
1 1
arthritis
Response to zileuton treatment in
1 1
asthma (FEV1 change interaction)
Rheumatoid arthritis (ACPA-negative) 1 1
S-phenylmercapturic acid levels in

1 1
smokers
Schizophrenia or bipolar disorder 1 1

Sight-threatening diabetic retinopathy

1 1
in type 2 diabetes

1 1
measurement)
Smoking behaviour (maximum

1 1
cigarettes in a 24 hour period)
Smoking status (heavy vs never) 1 1
Social science traits (pleiotropy)

1 1
(HIPO component 1)

Spatial processing 1 1
Spontaneous preterm birth (preterm

1 0
delivery)

1 1
(intermittent)

1 1
(persistent)
Strenuous sports or other exercises 1 1
Subclinical atherosclerosis traits

1 1
(other)
Suicide attempts in schizophrenia 1 1

1 1
Systemic lupus erythematosus or

1 1
Thiopurine S-methyltransferase
1 1
activity
Ticagrelor levels in individuals with
acute coronary syndromes treated with 1 1
ticagrelor
Toenail selenium levels 1 1

1 1
45-60)
prostate cancer (decreased urine 1 1
stream) (time to event)
event)
prostate cancer (increased urinary 1 1
frequency) (time to event)
Treatment resistant depression 1 1
Urinary metabolite concentrations in

1 1
Urinary potassium excretion 1 1
Urinary potassium to creatinine ratio 1 0
1 1
White matter integrity 1 1
White matter integrity (bipolar

1 1
disorder risk interaction)
Word spelling 1 1

1 1
diabetes
new category has been created to represent
alue. This value indicates the quantile 95
h trait in the new bootstrapped gene set
GERP ≥ 6
Body mass index 4 4
Containing the words
4 4
"mineral density"
Heel bone mineral density 3 3
Amyotrophic lateral
2 1
sclerosis
Containing the word
2 2
"arthritis"
Asthma 2 2
Birth weight 2 1
Cardiovascular disease 2 1
Chronotype 2 2
Highest math class taken

2 2
(MTAG)
Menarche (age at onset) 2 2
Nasopharyngeal carcinoma
2 1
(SNP x SNP interaction)
Smoking initiation (ever
regular vs never regular) 2 2
(MTAG)
Waist-hip ratio 2 2
Acne (severe) 1 1
Acute urticaria and

angioedema (non-steroidal
1 0
anti-inflammatory drug-
induced)
Adverse response to
chemotherapy in breast
1 0
cancer (alopecia) (anti-
microtubule)
Age at voice drop 1 0
Age of smoking initiation

1 1
(MTAG)
Alcohol consumption 1 1
Alcohol consumption
1 1
(drinks per week)
Amyotrophic lateral
1 1
sclerosis (sporadic)
Asthma or chronic
obstructive pulmonary 1 0
disease
Atrial fibrillation 1 1
Bacterial meningitis 1 0
Balding type 1 1 1
Behavioural disinhibition
1 0
(generation interaction)
Bipolar disorder and
1 1
schizophrenia
Bitter alcoholic beverage
1 1
consumption
Bitter non-alcoholic
1 0
beverage consumption
Blood osmolality
1 0
(transformed sodium)
Blood urea nitrogen levels 1 1
BMI (adjusted for smoking

1 1
behaviour)
Body fat distribution (arm

1 1
fat ratio)
Body fat distribution (leg fat
1 1
ratio)
Body fat percentage 1 1
Bone mineral density (hip) 1 1

Cardiac Troponin-T levels 1 0
Carotid plaque burden 1 0
Chloride levels 1 0
Chronic obstructive
pulmonary disease-related 1 0
biomarkers
Cigarettes smoked per day
1 1
(MTAG)
Cognitive ability, years of
educational attainment or 1 1
schizophrenia (pleiotropy)
Cognitive decline rate in late

1 1

atherosclerotic plaque (130
1 1
HU threshold) in type 2
diabetes
Coronary artery disease in
1 0
type 1 diabetes
Creatinine levels 1 1
Cutaneous malignant
1 0
melanoma
Daytime sleep phenotypes 1 1
Economic and political

1 0
preferences (time)
Emphysema imaging
1 0
phenotypes
Facial morphology (factor

1 0
18)
Fat-free mass 1 1
Frontotemporal dementia
1 0
with GRN mutation
Granulocyte count 1 1
Hand grip 1 1
HDL cholesterol 1 1
Homeostasis model
assessment of beta-cell
1 0
function (dietary factor
interaction)
Hyperuricemia 1 0
IgG glycosylation 1 1
Inflammatory biomarkers 1 0
Joint damage in rheumatoid

1 0
arthritis
Joint mobility (Beighton
1 0
score)
Knee osteoarthritis 1 0
Length of menstrual cycle 1 0
Lifetime smoking index 1 1
Mental health study

participation (provided 1 0
email address)
Metabolite levels (X-

1 0
11787)
Mosaic loss of chromosome

1 1
Y (Y chromosome dosage)
Neutrophil count 1 1
Non-small cell lung cancer 1 0
Optic disc area 1 0
Optic disc size 1 1

Parkinson's disease 1 1
Post bronchodilator FEV1 in

1 0
COPD
Predicted visceral adipose

1 1
tissue
QT interval 1 1
Regular attendance at a pub

1 0
or social club
Risk-taking tendency (4-

domain principal component 1 1
model)
Self-reported risk-taking
1 0
behaviour
Serum uric acid levels 1 1

Skin aging
(microtopography 1 0
measurement)
Smoking behaviour 1 1
Smoking behaviour
1 1
(cigarettes smoked per day)
Smoking cessation (MTAG) 1 1

Smoking status (ever vs
1 1
never smokers)
Sodium levels 1 0
Suicide attempts in bipolar

1 0
disorder or schizophrenia
Sum basophil neutrophil

1 1
counts
Sum neutrophil eosinophil

1 1
counts
Tea consumption 1 1
Tonsillectomy 1 1
Total ventricular volume 1 0
Triglycerides 1 1
Urate levels 1 1
Venous thromboembolism 1 1
Waist circumference
adjusted for BMI (joint
1 1
analysis main effects and
physical activity interaction)
Waist circumference
adjusted for body mass 1 1
index
PolyPhen Possibly Damaging
Core binding factor acute

25 22
myeloid leukemia
Diastolic blood pressure 19 19
Post bronchodilator
17 13
FEV1/FVC ratio
DNA methylation variation
13 10
(age effect)
Platelet count 10 9
Birth weight 9 8

Granulocyte percentage of
8 6
myeloid white cells
Monocyte percentage of
8 6
white cells
Chronic inflammatory
diseases (ankylosing
spondylitis, Crohn's disease,
7 6
psoriasis, primary sclerosing
cholangitis, ulcerative colitis)
(pleiotropy)
High density lipoprotein
7 7
cholesterol levels
Neutrophil count 7 6
Optic disc size 7 4
Plateletcrit 7 7

Adult asthma 6 2
Age of smoking initiation
6 5
(MTAG)
Alcohol consumption (drinks

6 5
per week) (MTAG)
Blood pressure 6 6
Chin dimples 6 3
Lymphocyte counts 6 6
Lymphocyte percentage of
6 5
white cells
Mononucleosis 6 2
Testicular germ cell tumor 6 3
White blood cell count

6 4
(basophil)
Allergic sensitization 5 2
Asthma onset (childhood vs

5 3
adult)
Chronic obstructive
pulmonary disease or resting 5 3
heart rate (pleiotropy)
Colonoscopy-negative
controls vs population 5 4
controls
Estimated glomerular
5 3
filtration rate in non-diabetics
Gut microbiota (bacterial

5 3
taxa)
Gut microbiota (beta

5 2
diversity)
Lobe attachment (rater-scored

5 4
or self-reported)
Mean corpuscular
5 4
hemoglobin concentration
Neurological blood protein

5 2
biomarker levels
Neutrophil percentage of
5 5
white cells
Peripheral arterial disease
(traffic-related air pollution 5 4
interaction)
Systemic sclerosis 5 4
Thiazide-induced adverse
metabolic effects in 5 3
hypertensive patients
Type 2 diabetes (adjusted for

5 2
BMI)
Allergic rhinitis 4 4

Basal cell carcinoma 4 4
Bipolar disorder and
4 4
schizophrenia
Bipolar disorder or major
4 1
depressive disorder
Bitter alcoholic beverage

4 4
consumption
Cerebrospinal fluid AB1-42

4 3
levels
Cerebrospinal fluid
4 3
biomarker levels
Chronic lymphocytic
4 3
leukemia
Coronary heart disease 4 4
HDL cholesterol levels x long

total sleep time interaction 4 3
(2df test)
Huntington's disease
4 2
progression
Leprosy 4 2
Memory dysfunction in
4 1
Metabolite levels (small

molecules and protein 4 2
measures)
Mouth ulcers 4 3
Nasopharyngeal carcinoma
4 4
(SNP x SNP interaction)
Palmitoleic acid (16:1n-7)
4 1
levels
QRS duration 4 4
Red blood cell traits 4 3
Risk-taking tendency (4-

domain principal component 4 4
model)
Subjective well-being 4 4
Tea consumption 4 3
Age-related macular
3 3
degeneration
Alcohol use disorder 3 3
Alcohol use disorder

3 2
(consumption score)
Alcohol use disorder (total

3 2
score)
Allergy 3 2
Alopecia areata 3 3
Asthma and hay fever 3 2
Asthma and major depressive

3 3
disorder
Autism spectrum disorder,
attention deficit-hyperactivity
disorder, bipolar disorder,
3 3
major depressive disorder,
and schizophrenia
(combined)
Beard thickness 3 2
Cerebrospinal fluid clusterin

3 2
levels
Chronic obstructive
pulmonary disease or high 3 3
blood pressure (pleiotropy)
Circulating vasoactive
3 1
peptide levels
Coronary artery calcification 3 3

atherosclerotic plaque (130
3 3
HU threshold) in type 2
diabetes
Coronary artery disease
(myocardial infarction,
percutaneous transluminal
coronary angioplasty, 3 3
coronary artery bypass
grafting, angina or chromic
ischemic heart disease)
Elevated serum
carcinoembryonic antigen 3 1
levels
Glucagon levels in response

to oral glucose tolerance test 3 0
(fasting)
Headache 3 2
Heart rate increase in

3 1
response to exercise
Heart rate response to
recovery post exercise (50 3 2
sec)
Hematology traits 3 2
Hepatocyte growth factor

3 1
levels
HIV-1 control 3 2
Idiopathic membranous
3 1
nephropathy
Immune response to smallpox
3 2
vaccine (IL-6)
Intracranial aneurysm 3 3
Keratinocyte cancer (MTAG) 3 3
LDL cholesterol levels in

3 3
current drinkers
LDL cholesterol levels x
alcohol consumption
3 3
(drinkers vs non-drinkers)
interaction (2df)
LDL cholesterol levels x
alcohol consumption (regular
3 3
vs non-regular drinkers)
interaction (2df)
Limited cutaneous systemic
3 1
scleroderma
Loneliness (multivariate
3 2
analysis)
Medication use (beta
3 3
blocking agents)
Medication use (drugs used in

3 3
diabetes)
Motion sickness 3 2
Nonunion in individuals with

3 1
fractures
Pediatric autoimmune
3 2
diseases
Response to antipsychotic
3 3
treatment
Response to cognitive-
behavioural therapy in 3 3
anxiety disorder
Response to fenofibrate
3 1
(triglyceride levels)
Response to hepatitis B
3 2
vaccine
Scarlet fever 3 2
Serum alkaline phosphatase

3 2
levels
Serum metabolite levels
3 3
(CMS)
Skin reflectance (Melanin
3 2
index)
Smooth-surface caries 3 2
Strep throat 3 2
Stroke 3 3
Systolic blood pressure
(cigarette smoking 3 3
interaction)
Takayasu arteritis 3 3
Time-dependent creatinine
clearance change response to
tenofovir treatment in HIV 3 2
infection (time and treatment
arm interaction)

consumption (drinkers vs
3 3
non-drinkers) interaction
(2df)
consumption (regular vs non-
3 3
regular drinkers) interaction
(2df)
Urinary albumin excretion 3 3
Age at loss of ambulation in

Duchenne muscular 2 2
dystrophy
Age-related diseases,
mortality and associated 2 2
endophenotypes

Albumin-globulin ratio 2 2
Alcohol consumption in
2 1
current drinkers
Anthropometric traits 2 2
Anthropometric traits (multi-

2 2
trait analysis)
Asthma (moderate or severe) 2 2
Asthma (time to onset) 2 1

2 1
Automobile speeding
2 2
propensity
Behavioural changes in
2 0
Bipolar disorder (body mass

2 2
index interaction)
Bitter non-alcoholic beverage
2 1
consumption
Blood metabolite ratios 2 2

Blood pressure (smoking
2 2
interaction)
Breast cancer and/or

2 1
colorectal cancer
Bulimia nervosa 2 2
Caffeine metabolism (plasma

1,7-dimethylxanthine
(paraxanthine) to 1,3,7- 2 1
trimethylxanthine (caffeine)
ratio)
Cerebrospinal fluid t-
2 2
tau:AB1-42 ratio
Chronic mountain sickness 2 1
Chronic obstructive
pulmonary disease-related 2 2
biomarkers
Coffee consumption (cups
2 1
per day)
Colorectal cancer (calcium
2 1
intake interaction)
Common carotid intima-
media thickness in HIV 2 1
negative individuals
Copper levels 2 2
Coronary artery aneurysm in
2 1
Kawasaki disease

atherosclerotic plaque score 2 2
in type 2 diabetes
Coronary artery disease or
2 1
ischemic stroke
Coronary artery disease or
2 2
large artery stroke
Creatine kinase levels 2 2
Crohn's disease-related
2 1
phenotypes
Delirium 2 2
Dental caries (decayed and

2 2
filled deciduous teeth)
antihypertensive drug
2 1
treatment (treatment strategy
interaction)
Diastolic blood pressure

(cigarette smoking 2 2
interaction)
Electrocardiographic
2 1
conduction measures
Emphysema annual change
measurement in smokers 2 2
(adjusted lung density)
Epstein-Barr virus immune
2 1
response (EBNA-1)
Eyebrow thickness 2 2
Gastric cancer 2 1
Glioma 2 1
Glucocorticoid-induced
2 2
osteonecrosis
Gut microbiota (alpha
2 2
diversity)
Gut microbiota (functional
2 2
units)
2 2
exercise
2 2
recovery post exercise
sec)
sec)
sec)
Hematological and
2 2
biochemical traits
Hypertriglyceridemia 2 2
Hypospadias 2 2
Infant length 2 1
Initial pursuit acceleration in
2 1
psychotic disorders
Irritable mood 2 2
Ischemic stroke
2 1
(cardioembolic)
Lupus nephritis in systemic

2 2
lupus erythematosus
Matrix metalloproteinase-8
2 1
levels
MGMT methylation in
2 1
smokers
Moyamoya disease 2 2
Nasal polyps 2 1
Neonatal cytokine/chemokine
2 1
levels (fetal genetic effect)
Non-alcoholic fatty liver

2 1
disease histology (lobular)
Non-cardia gastric cancer 2 1
Nonsyndromic cleft lip with

2 2
cleft palate
Nose morphology 2 2
Optic cup area 2 2
Optic disc area 2 2
Parasitemia in Tripanosoma
2 2
cruzi seropositivity
Peripheral artery disease 2 2

Plasma anti-thyroglobulin
and anti-thyroid peroxidase 2 1
levels (bivariate analysis)
Plasma anti-thyroglobulin
2 2
levels
Plasminogen activator
inhibitor type 1 levels (PAI- 2 1
1)
Regular attendance at a pub

2 2
or social club
Response to abacavir-
containing treatment in HIV- 2 2
1 infection (virologic failure)
Response to efavirenz-
containing treatment in HIV 1 2 2
infection (virologic failure)
2 1
Response to radiotherapy in
prostate cancer (toxicity, 2 1
urinary frequency)
Schizophrenia, bipolar
disorder and depression 2 1
(combined)
Self-reported allergy 2 2
Serum protein levels (sST2) 2 1
Systemising 2 1
Tenofovir clearance in HIV

2 2
infection
Thyrotoxic hypokalemic
periodic paralysis and Graves 2 1
disease
Trans fatty acid levels 2 2
Triglycerides x physical
2 1
activity interaction (2df test)
Type 1 diabetes and

2 1
autoimmune thyroid diseases
Upper eyelid sagging severity 2 1
Urate levels in overweight

2 2
individuals
Waist-to-hip ratio adjusted

for BMI (additive genetic 2 2
model)
White blood cell count

2 1
(eosinophil)
Acute anterior uveitis (with

or without ankylosing 1 1
spondylitis)
Acute graft versus host
disease in bone marrow
1 1
transplantation (recipient
effect)
Acute urticaria and
angioedema (non-steroidal
1 1
anti-inflammatory drug-
induced)
Adverse response to
chemotherapy
1 1
(neutropenia/leucopenia)
(carboplatin)

1 1
(memory) (slope of z-scores)
Age-related disease
1 1
endophenotypes
Age-related diseases and

1 1
mortality
Age-related macular
degeneration (extreme 1 1
sampling)
Age-related macular
degeneration (smoking status 1 1
interaction)
Aging (time to death) 1 1
Airway responsiveness in
chronic obstructive 1 1
pulmonary disease
Airway wall thickness 1 1
Alcohol consumption over

1 1
the past year
Alcoholism (12-month
1 0
weekly alcohol consumption)
Alzheimer's disease
1 1
progression score
Amygdala volume 1 1
Angiotensin-converting
1 0
enzyme activity
Antibody level in response to

1 1
infection
Anxiety/tension (special
1 1
factor of neuroticism)

Atopic march 1 1
Attention deficit
hyperactivity disorder (time 1 1
to onset)
Attention deficit
hyperactivity disorder 1 1
symptom score
Autism and schizophrenia
1 1
(MTAG)
B-cell malignancies (chronic
lymphocytic leukemia,
Hodgkin lymphoma or 1 1
multiple myeloma)
(pleiotropy)
B-type natriuretic peptide
1 0
levels
Bacteremia 1 1
Behavioral disturbance or
psychiatric symptoms and 1 0
prion disease
Behavioural disinhibition
1 1
(generation interaction)
Benign prostatic hyperplasia
and lower urinary tract
1 1
symptoms (prostate cancer
excluded)
Bipolar disorder or body
1 1
mass index
1 1
Birth length 1 1
Blood cell traits (multivariate

1 1
analysis)
Blood pressure traits (multi-

1 1
trait analysis)
Body mass index (change

over time) in gastrointestinal 1 1
cancer
Body mass index (change
over time) in gastrointestinal
1 1
cancer or chronic obstructive
pulmonary disease
Body mass index (SNP x
1 1
SNP interaction)
Bone ultrasound
measurement (broadband 1 1
ultrasound attenuation)
Brain volume in infants (grey
1 1
matter)
Branched-chain amino acid
1 1
levels (Isoleucine)
1 0
levels (Leucine)

1 1
levels (Valine)
BRCA1/2-negative high-risk
1 1
breast cancer
Breast cancer (survival) 1 1
Breast cancer specific

mortality in estrogen receptor 1 1
positive breast cancer
Broad depression or
1 1
schizophrenia
Bronchodilator response in
asthma (inhaled
1 1
corticosteroid treatment
interaction)
Bronchopulmonary dysplasia
1 1
in preterm infants
C-reactive protein levels in

1 1
ischemic stroke
C-reactive protein levels or

LDL-cholesterol levels 1 1
(pleiotropy)
Caffeine consumption 1 1
1,3-dimethylxanthine 1 1
(theophylline) level)

1,3,7-trimethylxanthine 1 1
(caffeine) level)
Candidemia 1 1
Cardiac troponin-I levels 1 1
Cardiovascular disease risk

1 1
factors
Carotid intima media
thickness in rheumatoid 1 0
arthritis
Caudal middle frontal gyrus

1 1
volume

Alzheimer's disease-related 1 1
proteins
Cerebrospinal fluid p-tau
levels in Alzheimer's disease 1 1
dementia
Cerebrospinal fluid p-
1 1
Tau181p:AB1-42 ratio
Change in serum metabolite
1 1
levels
Change in serum metabolite
1 1
levels (CMS)
Childhood dental caries in
1 0
permanent teeth
Chloride levels 1 1
Cholesterol efflux capacity 1 1
Chromosomal aberration
1 1
frequency (chromatid type)
Chromosomal aberration
frequency (chromatid type) in
1 0
genotoxic compound
exposure
Chronic bronchitis and
chronic obstructive 1 1
pulmonary disease
obstructive pulmonary 1 0
disease
Chronic lymphocytic
leukemia or rheumatoid 1 0
arthritis
Chronic mucus
1 1
hypersecretion
Chronic obstructive
pulmonary disease or
1 1
coronary artery disease
(pleiotropy)
Circulating chromogranin
1 0
peptide levels
circulating leptin levels

1 1
adjusted for BMI
Cobalt levels 1 1
Colorectal cancer (alcohol

1 0
consumption interaction)
Colorectal cancer (SNP x
1 1
SNP interaction)
Composite immunoglobulin
1 1
trait (IgG/IgM)
Conduct disorder (maternal
expressed emotions 1 1
interaction)
Corneal hysteresis 1 1
Coronary artery disease in

1 1
type 1 diabetes
Coronary atherosclerosis
(increased number of
1 1
diseased vessels) (traffic
exposure interaction)
Corpus callosum anterior
1 1
volume

Corrected insulin response
adjusted for insulin sensitivity 1 1
index
Cortical amyloid beta load 1 1
Crohn's disease (need for

1 0
surgery)
Crohn's disease (time to first

1 1
abdominal surgery)
Cutaneous lupus
1 1
erythematosus
Cystatin C 1 0
D-dimer levels 1 1
Degraded stimulus
continuous performance test 1 1
score
Dehydroepiandrosterone
1 1
sulphate levels
Dental caries (decayed and

filled deciduous tooth 1 1
surfaces)
Depression in response to
interferon-based therapy in 1 1
chronic hepatitis C
Depressive and manic
1 1
episodes in bipolar disorder
Depressive episodes in
1 1
bipolar disorder
Depressive symptoms
measurement (somatic 1 0
complaints domain)
Diastolic blood pressure x
smoking status (current vs
1 1
non-current) interaction (1df
test)
Disrupted circadian rhythm

(low relative amplitude of 1 1
rest-activity cycles)
Drug experimentation
1 1
measurement
Drug-induced liver injury

1 1
(diclofenac)
Drug-induced liver injury

1 1
(flucloxacillin)
Drug-induced Stevens-
Johnson syndrome or toxic
1 1
epidermal necrolysis
(SJS/TEN)
Early cardiac repolarization 1 1
Early diabetic kidney disease

1 1
in diabetes
Early onset atrial fibrillation 1 1
Eating disorders (purging via

1 1
substances)
Epigenetic age acceleration in

1 1
alcohol use disorder
Epstein Barr virus nuclear
antigen 1 IgG levels or 1 1
multiple sclerosis
Erosive tooth wear (severe vs

1 1
none or mild)
Esophageal cancer 1 1
Esophageal cancer (squamous

1 1
cell)
Estimated glomerular
filtration rate after 1 year in
1 1
renal transplantation (donor
effect)
Estradiol plasma levels
1 1
(breast cancer)

(number of eye fixations)
Extrinsic epigenetic age

1 1
acceleration
Eye morphology 1 1
Facial attractiveness (female

1 1
raters)
Facial morphology (factor 10,

1 1
width of nasal floor)

facial height related to 1 1
vertical position of gnathion)
width of mouth relative to 1 1
central midface)
height of vermillion lower 1 1
lip)
facial height related to 1 1
vertical position of nasion)
Facial morphology traits (63
three-dimensional facial 1 1
segments)
Familial hepatitis B virus-
related hepatocellular 1 1
carcinoma
Fasting blood glucose
1 1
adjusted for BMI
Fasting blood insulin (BMI

1 1
interaction)
Fasting blood insulin adjusted

1 1
for BMI
Fractional exhaled nitric

1 1
oxide (childhood)
Fractional exhaled nitric

1 0
oxide levels
Full scale intelligence

quotient (cesarean section 1 1
interaction)
Gamma glutamyl transferase
levels in low alcohol 1 1
consumption
Gastritis 1 1
GIP levels in response to oral

glucose tolerance test (120 1 1
minutes)
Glaucoma (primary angle

1 1
closure)
Glioblastoma 1 1
Glomerular filtration rate

1 1
(cystatin C)
osteonecrosis (age 10 years 1 1
and older)
osteonecrosis (time 1 0
dependent analysis)
Glycemic traits (multi-trait
1 0
analysis)
Glycemic traits (pregnancy) 1 1

sec)
Helicobacter pylori serologic

1 1
status
Helping behaviour (self
1 1
reported)
HIV progression (CD4 and
1 1
viral load)
HIV-associated
1 1
neurocognitive disorder
HIV-associated
neurocognitive disorder (mild
neurocognitive disorder or 1 1
asymptomatic neurocognitive
impairment)
Homeostasis model
assessment of insulin 1 0
resistance in less-fat diet
Huntington's disease (age at
1 0
onset)
Idiopathic intracranial
1 1
hypertension
Immune reponse to smallpox

1 1
(secreted IL-2)
Immune response to measles-
1 1
mumps-rubella vaccine
Incident atrial fibrillation 1 1

Inguinal hernia 1 1
Insulin levels in response to
oral glucose tolerance test 1 0
(120 minutes)
Insulin levels in response to
oral glucose tolerance test (30 1 0
minutes)
Interleukin-2 receptor
1 1
antagonist levels
Intraocular pressure and

central corneal thickness 1 1
(multi-trait analysis)
Iron status biomarkers

1 1
(ferritin levels)
Job-related exhaustion in shift

1 0
workers
Laryngeal squamous cell

1 1
carcinoma
LDL peak particle diameter

1 1
(total fat intake interaction)
Lead levels in blood 1 1
Left ventricular fractional

1 0
shortening
Length of menstrual cycle 1 1
Lifespan 1 1
Lipoprotein (a) - cholesterol

1 1
levels
Lipoprotein phospholipase
A2 activity in cardiovascular 1 1
disease
Lipoprotein-associated
phospholipase A2 activity 1 1
and mass
Lipoprotein-associated
phospholipase A2 activity
1 1
change in response to statin
therapy
1 1
transaminase)
1 1
phosphatase)
Logical memory (delayed
recall) in mild cognitive 1 1
impairment
Longevity (90 years and
1 1
older)
Lung function (forced
expiratory flow during mid-
1 1
portion (25% and 75%) of
Lung function (low FEV1 vs
high FEV1) x smoking 1 1
interaction
Major depressive disorder

1 1
(probable)
Matrix metalloproteinase
1 1
levels
Medication use
1 1
(glucocorticoids)
Medication use (salicylic acid
1 1
and derivatives)
Menstruation quality of life
1 1
impact (acne)
Menstruation quality of life

1 1
impact (dysmenorrhea)
Metabolic syndrome
1 1
Metabolite risk score for
1 1
predicting weight gain
Methotrexate-induced
interstitial lung disease in 1 1
Microalbuminuria in type 1
1 1
diabetes
Midgestational circulating
levels of organochlorine 1 0
pesticides
Midgestational circulating
levels of PBDEs (fetal 1 1
genetic effect)
Modic changes 1 1
Molar-incisor
1 1
hypomineralization
Multiple sclerosis (severity) 1 1
Neonatal cytokine/chemokine
levels (maternal genetic 1 0
effect)
Neonatal lupus 1 1
Nephropathy 1 1
Neurocognitive impairment
in HIV-1 infection 1 1
(dichotomous)
Nickel levels 1 1

1 1

1 1
disease histology (AST)
Non-small cell lung cancer

1 1
(survival)
Nonalcoholic fatty liver

1 1
disease
Normal facial asymmetry
(angle of surface orientation 1 1
score)
Obesity without metabolic

1 1
disease
Obsessive-compulsive
disorder or autism spectrum 1 1
disorder
Obsessive-compulsive
1 1
symptoms
Obstructive sleep apnea trait
(average respiratory event 1 1
duration)
Oral cavity and pharyngeal

1 1
cancer
Osteoarthritis (hospital
1 1
diagnosed)
Osteoarthritis of the hip or
1 1
knee (hospital diagnosed)
Overweight status 1 1
Paclitaxel-induced
1 1
neuropathy
Palmitic acid (16:0) levels 1 1
Panic disorder 1 1
Pediatric bone mineral

1 1
content (radius)
Pediatric non-alcoholic fatty
1 1
liver disease activity score
Pediatric nonalcoholic
1 1
steatohepatitis
Peginterferon alfa-2a
treatment response in chronic 1 1
hepatitis B infection
Phospholipid levels in large
1 1
HDL
Plasma anti-thyroid
1 1
peroxidase levels
Plasma clozapine levels in

treatment-resistant 1 0
schizophrenia
Plasma omega-3
polyunsaturated fatty acid
1 1
levels (docosapentaenoic
acid)
Plasma trimethylamine N-
1 1
oxide levels
Platelet reactivity
measurement (collagen- 1 0
epinephrine)
Pneumoconiosis in silica
1 1
exposure
Polymyositis 1 1
Poor prognosis in Crohn's

1 1
disease
1 1
Alzheimer's disease
Postprandial triglyceride
1 1
response to high fat diet meal
PR segment 1 1
Prepulse inhibition of the

1 1
startle response
Prevalent atrial fibrillation 1 1
Primary tooth development

1 1
(number of teeth)
Primary tooth development
1 1
(time to first tooth eruption)
Progression free survival in
metastatic colorectal cancer
1 0
(CAPOX-B vs CAPOX-B
plus cetuximab)
Proliferative diabetic
retinopathy (vs NPDR and no 1 1
DR)
Prostate-specific antigen
levels (conditioned on lead 1 1
SNPs)
Prothrombin time 1 1
Psychosis and Alzheimer's
1 1
disease
QRS complex (Sokolow-
1 1
Lyon)
Response to anti-retroviral
therapy (ddI/d4T) in HIV-1
1 1
infection (Grade 1 peripheral
neuropathy)
Response to citalopram
1 1
treatment
Response to
cyclophosphamide in
1 1
systemic lupus erythematosus
with lupus nephritis
Response to cytidine
1 1
analogues (gemcitabine)
1 1
(adiponectin levels)
1 1
schizophrenia
1 1
(everolimus)

1 1
(rapamycin)
Response to paliperidone in
1 1
schizophrenia (Multivariate)
1 1
chemotherapy (cisplatin)
neoadjuvant chemotherapy in 1 1
cervical cancer
Response to selective
serotonin reuptake inhibitors 1 1
in depression
Response to statins (LDL

1 1
cholesterol change)
Response to taxane treatment

1 1
(placlitaxel)
Response to temozolomide 1 0

rheumatoid arthritis (change 1 0
in disease activity score)

rheumatoid arthritis (change 1 1
in tender 28-joint count)
Response to tocilizumab in
1 1
Rheumatic fever 1 1
Rheumatoid arthritis (ACPA-

1 1
negative)
Schizophrenia or bipolar
1 1
disorder
Serous borderline ovarian

1 1
cancer
Serum alpha1-antitrypsin
1 0
levels
Serum bilirubin levels x
Mediterranean diet adherence
1 1
interaction in metabolic
syndrome
Serum prostate-specific
1 1
antigen levels
Sight-threatening diabetic
1 1
retinopathy in type 2 diabetes

1 1
measurement)
Smoking status (heavy vs

1 1
never)
Soluble levels of adhesion
1 0
molecules
Spatial processing 1 1
Staphylococcus aureus
1 1
infection
Staphylococcus aureus nasal
1 1
carriage (intermittent)
Staphylococcus aureus nasal
1 1
carriage (persistent)
Stearic acid (18:0) levels 1 1
Stevens-Johnson syndrome
and toxic epidermal 1 1
necrolysis (SJS-TEN)
Stroke (ischemic) 1 1
Stromal-cell-derived factor 1
1 1
alpha levels
Subjective response to
lithium treatment in bipolar 1 1
disorder
Suicide attempts in
1 1
schizophrenia
Surgical necrotising
enterocolitis in extremely 1 1
premature birth
Survival in breast cancer
1 0
(estrogen-receptor positive)
Systemic sclerosis (anti-

1 1
topoisomerase-positive)
1 1
change trajectories
Thionamide-induced
agranulocytosis in Graves' 1 1
disease
Thiopurine S-
1 1
methyltransferase activity
Thiopurine-induced digestive
symptoms in inflammatory 1 0
bowel disease
Thyroid peroxidase antibody

1 1
levels
Total cholesterol levels in

1 1
HDL

Toxicity response to
radiotherapy in prostate
1 1
cancer (hematuria) (time to
event)
Treatment resistant
1 1
depression
Triglycerides-Blood Pressure
1 1
(TG-BP)

Type 1 diabetes nephropathy 1 1
Urinary albumin-to-creatinine
1 1
ratio in diabetes
Urinary metabolite
concentrations in chronic 1 1
kidney disease
Urinary metabolites (H-NMR
1 1
features)
Urinary potassium excretion 1 1
Urinary sodium to creatinine

1 0
ratio
Urolithiasis 1 1
Uveal melanoma with any

1 1
chromosomal aberration
Verbal memory performance
(residualized delayed recall 1 1
level)
Waist Circumference -
1 1
Triglycerides (WC-TG)
Waist circumference adjusted

for BMI (smoking 1 0
interaction)
Waist circumference and

1 1
related phenotypes
Waist-to-hip circumference
ratio (dietary energy 1 1
interaction)
Waist-to-hip circumference
ratio (ever vs never smoking 1 1
interaction)
Weight loss (gastric bypass
1 1
surgery)
White matter integrity 1 1
White matter integrity

(bipolar disorder risk 1 1
interaction)
Whole brain grey matter
1 1
density
Yu-Zhi constitution type in
1 1
type 2 diabetes
PolyPhen Probably Damaging
Height 62 54
Containing the words "mineral density" 35 35
Eosinophil counts 17 17
DNA methylation variation (age effect) 13 10

Granulocyte percentage of myeloid white cells 9 7
Medication use (agents acting on the renin-

9 7
angiotensin system)

Celiac disease 8 5
3-hydroxy-1-methylpropylmercapturic acid
7 7
levels in smokers
Atrial fibrillation 7 7
Lobe attachment (rater-scored or self-reported) 7 5
Medication use (calcium channel blockers) 7 4
Tonsillectomy 6 6
Aspartate aminotransferase levels 5 4

Estimated glomerular filtration rate in non-
5 4
diabetics
Macular thickness 5 5

Offspring birth weight 5 5
Peripheral arterial disease (traffic-related air

5 4
pollution interaction)
QRS duration 5 4
Tea consumption 5 3
Alzheimer's disease (late onset) 4 4
Bipolar disorder and schizophrenia 4 4

Chin dimples 4 3
Chronic obstructive pulmonary disease or high

4 3
blood pressure (pleiotropy)
Cognitive decline rate in late mild cognitive
4 4
impairment
Coronary artery disease (myocardial infarction,

percutaneous transluminal coronary
4 4
angioplasty, coronary artery bypass grafting,
angina or chromic ischemic heart disease)
Mononucleosis 4 2
Pneumonia 4 3
Predicted visceral adipose tissue 4 4
Subjective well-being 4 4
Tourette syndrome 4 4
Trunk fat mass 4 3
Visceral adipose tissue adjusted for BMI 4 3

Worry 4 5
Asymmetrical dimethylarginine levels 3 2
Autism spectrum disorder, attention deficit-

hyperactivity disorder, bipolar disorder, major
3 3
depressive disorder, and schizophrenia
(combined)
Basophil percentage of white cells 3 3
Cerebrospinal fluid AB1-42 levels 3 3
Chronic obstructive pulmonary disease or

3 2
resting heart rate (pleiotropy)

Glomerular filtration rate (creatinine) 3 3
Glomerular filtration rate in chronic kidney

3 2
disease
Gut microbiota (bacterial taxa) 3 3
LDL cholesterol levels x short total sleep time

3 3
Lumbar spine bone mineral density 3 3

3 1
(dysmenorrhea)
Mouth ulcers 3 3

Waist-to-hip ratio adjusted for BMI (additive
3 2
genetic model)

2 1
Age-related cognitive decline (language) (slope

2 2
of z-scores)
Alzheimer's disease in APOE e4- carriers 2 2
Antineutrophil cytoplasmic antibody-

2 2
associated vasculitis
antipsychotic drug dosage in schizophrenia or

2 1
schizoaffective disorder

Bipolar disorder or major depressive disorder 2 1
Blood osmolality (transformed sodium) 2 2
Bone mineral density (Ward's triangle area) 2 1
Bulimia nervosa 2 2
Cadmium levels 2 2
Carboplatin disposition in epthelial ovarian

2 2
cancer
Cardiac Troponin-T levels 2 2
Cerebrospinal fluid levels of Alzheimer's

2 1
disease-related proteins
Cerebrospinal fluid p-tau levels 2 2
Cerebrospinal fluid t-tau levels 2 2
Cholangiocarcinoma in primary sclerosing

2 1
cholangitis (time to event)
Cleft lip with or without cleft palate (maternal

2 1
periconceptional vitamin use interaction)
Coronary artery calcified atherosclerotic plaque

2 2
score in type 2 diabetes
Dehydroepiandrosterone sulphate levels 2 1

Depressive and manic episodes in bipolar
2 1
disorder
Depressive episodes in bipolar disorder 2 1

2 1
Electrodermal activity 2 1
Elevated serum carcinoembryonic antigen

2 1
levels
Emphysema imaging phenotypes 2 2
Epigenetic age acceleration in alcohol use

2 1
disorder
Estrone/androstenedione ratio in resected early

2 1
stage-receptor positive breast cancer
Gut microbiome composition (summer) 2 2
Hair greying 2 2
Headache 2 2
Heart rate increase in response to exercise 2 1
Heart rate response to recovery post exercise

2 2
(20 sec)

2 2
(30 sec)
2 1
(40 sec)
2 2
(50 sec)
Hyperuricemia 2 1
IgA nephropathy 2 2
Juvenile idiopathic arthritis (oligoarticular or
2 2
rheumatoid factor-negative polyarticular)
Knee osteoarthritis 2 2
Limited cutaneous systemic scleroderma 2 1
Logical memory (delayed recall) in mild

2 1
Lung function (low FEV1 vs high FEV1) x

2 1
smoking interaction
Malaria 2 1
Memory dysfunction in frontotemporal lobe

2 1
dementia
Metabolite levels (lipoprotein measures) 2 2

Migraine without aura 2 2
Narcolepsy 2 2
Neurological blood protein biomarker levels 2 2

Obstructive sleep apnea during REM sleep

2 1
(apnea hypopnea index)
Periodontal disease-related phenotype

2 2
(Socransky)
Plasma omega-6 polyunsaturated fatty acid

2 2
levels (linoleic acid)
Plasminogen activator inhibitor type 1 levels

2 1
(PAI-1)
Preterm birth (maternal effect) 2 1

2 1
interaction)
Red vs. brown/black hair color 2 2

obstructive pulmonary disease (change in 2 2
FEV1)
Response to fenofibrate (triglyceride levels) 2 1
Scarlet fever 2 2
Self-reported allergy 2 2
Severity of nausea and vomiting of pregnancy 2 1
Social communication problems 2 2
Spherical equivalent (joint analysis main

2 2
effects and education interaction)
Stromal-cell-derived factor 1 alpha levels 2 1
Suicide attempts in bipolar disorder or

2 1
schizophrenia
Survival in pancreatic cancer 2 2
Thyrotoxic hypokalemic periodic paralysis and

2 1
Graves disease

TRAIL levels 2 2
Type 1 diabetes and autoimmune thyroid

2 1
diseases
Adverse response to chemotherapy in breast

1 1
cancer (alopecia) (anti-microtubule)
Adverse response to chemotherapy in breast

1 1
cancer (alopecia) (paclitaxel)
Age-related cognitive decline (global

1 1
cognition) (slope of z-scores)
Airway responsiveness in chronic obstructive

1 1
pulmonary disease
Alanine aminotransferase levels in low alcohol
1 1
consumption
Alcohol consumption (max-drinks) 1 1

1 0
consumption)
Alzheimer's disease with no specific cognitive
1 1
domain impairment
Anticoagulant levels 1 1
Antidepressant treatment resistance (number of

1 1
drugs prescribed)
Anxiety disorder 1 1
Anxiety/tension (special factor of neuroticism) 1 1
Aspartate aminotransferase levels in excessive

1 1
alcohol consumption
Asthma and attention deficit hyperactivity

1 1
disorder
Asthma or chronic obstructive pulmonary

1 1
disease
1 1
symptom score
Atypical femoral fracture in phosphonate
1 1
treatment

Bacteremia 1 1
Barrett's esophagus or Esophageal

1 1
adenocarcinoma

1 1
interaction)
Benign prostatic hyperplasia and lower urinary

1 1
tract symptoms (prostate cancer excluded)
Binge eating behaviour and bipolar disorder 1 1
Blood pressure measurement (cold pressor test) 1 1
Blood trace element (Cu levels) 1 1
Body mass index (smoking years interaction) 1 1
Body mass index (change over time) in lung

1 1
cancer
Brain volume in infants (grey matter) 1 1

Breast milk fatty acid composition (maternal
1 1
genotype effect)
Cardiovascular disease risk factors 1 1
Cephalic index 1 1
Cerebrospinal fluid t-tau levels in normal

1 1
cognition

Change in serum metabolite levels (CMS) 1 1
Cholesterol efflux capacity 1 1
Chronic mucus hypersecretion 1 1
Chronic obstructive pulmonary disease or

1 1
coronary artery disease (pleiotropy)
Cisplatin-induced ototoxicity 1 1
Cobalt levels 1 1
Cognitive impairment test score 1 1
Cognitive performance (processing speed) 1 1
Colorectal cancer (SNP x SNP interaction) 1 1
Complement C3 and C4 levels 1 1
Coronary artery disease or ischemic stroke 1 1
Crohn's disease (need for surgery) 1 0
Cutaneous malignant melanoma 1 1
Daytime nap 1 1
Deep ovarian and/or rectovaginal disease with

1 1
dense adhesions
Depressive symptom improvement 1 1
DHEAS levels 1 1
Eating disorders (purging via substances) 1 1

1 1
seropositivity
Endometrial cancer (Non-endometrioid

1 1
histology)
Eosinophilic esophagitis (pediatric) 1 1
Eye morphology 1 1
Facial morphology (factor 9, facial height

1 1
related to vertical position of nasion)
Facial morphology traits (63 three-dimensional
1 1
facial segments)
Fat distribution (HIV) 1 1
Fear of minor pain 1 1
Formal thought disorder in schizophrenia 1 1
Fractional exhaled nitric oxide (childhood) 1 1
Frontotemporal dementia with GRN mutation 1 1
Fructosamine levels 1 0
Full scale intelligence quotient (cesarean

1 0
section interaction)

1 1
Gamma glutamyl transferase levels in low
1 1
alcohol consumption
Gamma glutamyl transpeptidase 1 1
Gemcitabine-induced early high-grade

1 1
neutropenia in pancreatic cancer
Glucagon levels in response to oral glucose
1 0
tolerance test (fasting)
Handedness 1 1

1 1
(10 sec)
Heart rate variability traits (RMSSD) 1 1
Heart rate variability traits (SDNN) 1 1
Helping behaviour (self reported) 1 1
Hepatitis B virus-related hepatocellular

1 0
carcinoma
Hepatitis C induced liver fibrosis 1 1
High chromosomal aberration frequency

(chromosome type) in genotoxic compound 1 0
exposure
Hip geometry 1 1
Hippocampal sclerosis 1 1
Hormone measurements 1 1
Hyperopia 1 1
Hypertension (SNP x SNP interaction) 1 1
Hypertension risk in short sleep duration 1 1
Idiopathic osteonecrosis of the femoral head 1 1

IgM levels 1 1
Interleukin-2 receptor antagonist levels 1 1

Kidney disease (end stage renal disease vs non-

1 0
end stage renal disease) in type 1 diabetes
Knee pain 1 0
Language impairment in frontotemporal lobe

1 0
dementia
Laryngeal squamous cell carcinoma 1 1
LDL (oxidized) 1 0
Lipid traits (pleiotropy) (HIPO component 2) 1 1

Lipoprotein (a) - cholesterol levels 1 1
Lipoprotein-associated phospholipase A2
1 1
activity and mass
Low high density lipoprotein cholesterol levels 1 1
Lumbar spine bone mineral density (trabecular) 1 1
Lung function (forced expiratory flow during

mid-portion (25% and 75%) of forced vital 1 1
capacity)
Maximum cranial width 1 1
Medication use (antimigraine preparations) 1 1
Menstruation quality of life impact (acne) 1 1

Menstruation quality of life impact (edema) 1 1
Methotrexate phramacokinetics (acute

1 1
lymphoblastic leukemia)
Midgestational circulating levels of PBDEs

1 1
(fetal genetic effect)
Multiple sclerosis and body mass index

1 0
(pleiotropy)
Myocardial infarction (early onset) 1 1
Non-alcoholic fatty liver disease histology

1 1
(lobular)
Obesity (early onset extreme) 1 1

Osteoarthritis of the hip (hospital diagnosed) 1 1
Osteoarthritis of the hip or knee (hospital

1 1
diagnosed)
Osteoarthritis of the hip or knee (with total

1 0
joint replacement)
Osteoarthritis of the knee (hospital diagnosed) 1 1
Osteolysis in total hip arthroplasty (time to

1 1
prosthesis revision)
Paneth cell defects in Crohn's disease 1 1
Pediatric bone mineral content (radius) 1 1
Pediatric non-alcoholic fatty liver disease

1 1
activity score
Peginterferon alfa-2a treatment response in

1 1
chronic hepatitis B infection
Perceived intensity of neohesperidin
1 1
dihydrochalcone
perceptual and visual search speed (trail
1 0
making test A) (age interaction)
Phenylephrine infusion rate during anesthesia 1 1
Placebo response in major depressive disorder

1 1
(% change in symptom score)
Plasma anti-thyroglobulin and anti-thyroid
1 1
peroxidase levels (bivariate analysis)
Plasma omega-3 polyunsaturated fatty acid
1 1
levels (docosapentaenoic acid)
Post-traumatic stress disorder (asjusted for

1 1
relatedness)
Posterior cortical atrophy and Alzheimer's

1 1
disease
Premature menopause in childhood cancer

1 1
survivors
Prepulse inhibition of the startle response 1 1
Primary tooth development (number of teeth) 1 1
Primary tooth development (time to first tooth

1 1
eruption)
Prion diseases 1 1
Prostate-specific antigen levels (conditioned on

1 1
lead SNPs)
Proteinuria 1 1
Proteinuria (mild) 1 0
Proteinuria (moderate to severe) 1 0
Rapid automised naming of pictures 1 1

1 1
Relapse in multiple sclerosis 1 0

Response to acetaminophen (hepatotoxicity) 1 1
Response to alcohol consumption (flushing

1 1
response)
Response to anti-retroviral therapy (ddI/d4T) in

HIV-1 infection (Grade 1 peripheral 1 1
neuropathy)
Response to anti-retroviral therapy (ddI/d4T) in
HIV-1 infection (Grade 2 peripheral 1 1
neuropathy)
Response to intravenous immunoglobulin
1 0
treatment in Kawasaki disease
Response to lurasidone in schizophrenia 1 1
Response to methotrexate in rheumatoid

1 0
arthritis
Response to paliperidone in schizophrenia

1 1
(Multivariate)
Response to platinum-based chemotherapy

1 1
(carboplatin)
Response to platinum-based neoadjuvant

1 1
chemotherapy in cervical cancer
Response to radiotherapy in prostate cancer

1 1
(toxicity, urinary frequency)
Response to statins (LDL cholesterol change) 1 1

Rheumatoid arthritis (ACPA-negative) 1 1
Select biomarker traits 1 1
Serum 25-Hydroxyvitamin D levels 1 1
Serum bilirubin levels x Mediterranean diet

1 1
adherence interaction in metabolic syndrome
Serum creatinine levels 1 1
Serum tamsulosin hydrochloride concentration 1 1
Severe skin toxicity response to cetuximab in

1 1
colorectal cancer
Sex hormone levels 1 1
Smoking behaviour (maximum cigarettes in a

1 1
24 hour period)
Smoking status (heavy vs never) 1 1
Spontaneous preterm birth (preterm delivery) 1 0

Strenuous sports or other exercises 1 1
Stress sensitivity (neuroticism score x major

1 1
depressive disorder status interaction)
Subclinical atherosclerosis traits (other) 1 1
Subjective response to lithium treatment in

1 1
bipolar disorder
Subjective response to placebo treatment in
1 1
childhood asthma (change in cough/wheeze)
Sucrose liking 1 1
Suicide attempts in schizophrenia 1 1
Systemic lupus erythematosus and Systemic

1 1
sclerosis
Systemic lupus erythematosus or rheumatoid

1 1
arthritis
Systolic blood pressure response to

1 1
Tacrolimus trough concentration in kidney

1 1
transplant patients
Thrombin generation potential phenotypes 1 0
Thyroid peroxidase antibody levels 1 1

Ticagrelor levels in individuals with acute
1 1
coronary syndromes treated with ticagrelor
Total body bone mineral density (age over 60) 1 1
Total glycated albumin levels 1 0
Toxicity response to radiotherapy in prostate

1 1
cancer (decreased urine stream) (time to event)
Toxicity response to radiotherapy in prostate

cancer (increased urinary frequency) (time to 1 1
event)
Treatment resistant depression 1 1
Tumor necrosis factor alpha levels 1 1
Vitamin D insufficiency 1 0
Vitamin D levels (dietary vitamin D intake

1 1
interaction)
Voxel-wise structural brain imaging

1 1
measurements in Alzheimer’s disease
1 1
Waist-to-hip ratio adjusted for BMI in inactive

1 1
individuals

Table S7 Complete CPDB enrichment analysis results
All appearing pathways in the enrichment analysis using CPDB as reference database are shown.
percentage of set genes in the observed sample, the p-value and q-value of the enrichment, the sou
gene subset.
Criteria met
Q-value < 0.05

*GERP ≥ 6 did not report any enriched trait
plete CPDB enrichment analysis results
pathways in the enrichment analysis using CPDB as reference database are shown. Following the pathway n
et genes in the observed sample, the p-value and q-value of the enrichment, the source database of the path
Pathway name
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Eicosapentaenoate biosynthesis
Fatty acid activation
G alpha (s) signaling events
NO2-dependent IL-12 pathway in NK cells
Olfactory receptor activity
Olfactory Signaling Pathway
Olfactory transduction - Homo sapiens (human)
Phytanic acid peroxisomal oxidation
rRNA modification in the nucleus and cytosol
rRNA processing
rRNA processing in the nucleus and cytosol
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
3-phosphoinositide degradation
3-phosphoinositide degradation
Acetate conversion to acetyl-CoA
Alpha-Linolenic acid metabolism - Homo sapiens (human)
Antiarrhythmic Pathway, Pharmacodynamics
Apoptotic cleavage of cell adhesion proteins
ATR Signaling
CHL1 interactions
Clathrin-mediated endocytosis
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Collagen formation
D-myo-inositol (1,3,4)-trisphosphate biosynthesis
D-myo-inositol (1,3,4)-trisphosphate biosynthesis
D-myo-inositol (1,4,5)-trisphosphate degradation
D-myo-inositol (1,4,5)-trisphosphate degradation
Degradation of the extracellular matrix
Di-unsaturated fatty acid beta-oxidation
Di-unsaturated fatty acid beta-oxidation
Endocytosis - Homo sapiens (human)
Endocytotic role of ndk phosphins and dynamin
Ethanol degradation II
Ethanol degradation II
Extracellular matrix organization
Extracellular matrix organization
Fatty Acid Biosynthesis
Fatty acid biosynthesis - Homo sapiens (human)
Fatty acid α-oxidation
Fatty acid β-oxidation
Fatty acid β-oxidation (peroxisome)
Fcgamma receptor (FCGR) dependent phagocytosis
Glycosphingolipid metabolism
Glycosphingolipid metabolism
GPCR downstream signalling
How does salmonella hijack a cell
HSP90 chaperone cycle for steroid hormone receptors (SHR)
IL-12 signaling
IL-12 and stat4 dependent signaling pathway in th1 development
IL-12 and stat4 dependent signaling pathway in th1 development
IL-12-mediated signaling events
Inflammasomes
Inositol phosphate metabolism - Homo sapiens (human)
Inositol phosphate metabolism - Homo sapiens (human)
Integrin
Interleukin-12 signaling
intrinsic prothrombin activation pathway
Keratinization
Laminin interactions
Lissencephaly gene (lis1) in neuronal migration and development
Lysine degradation I (saccharopine pathway)
Membrane Trafficking
Metabolism of Spingolipids in ER and Golgi apparatus
Mono-unsaturated fatty acid beta-oxidation
Mono-unsaturated fatty acid beta-oxidation
NO2-dependent LI-12 pathway in NK cells
NOD-like receptor signaling pathway - Homo sapiens (human)
Nucleotide-binding Oligomerization Domain (NOD) pathway
Nucleotide-binding Oligomerization Domain (NOD) pathway
Olfactory receptor activity
Olfactory Signaling Pathway
Olfactory transduction - Homo sapiens (human)
Omega-3 fatty acid metabolism
Ovarian Infertility Genes
Phospholipid metabolism
PI Metabolism
Plasma lipoprotein assembly
PPAR signaling pathway
PPAR signaling pathway - Homo sapiens (human)
PPAR signaling pathway - Homo sapiens (human)
Protein digestion and absorption - Homo sapiens (human)
RHO GTPases Activate WASPs and WAVEs
Ribosome biogenesis in eukaryotes - Homo sapiens (human)
Role of brca1 brca2 and atr in cancer susceptibility
Role of pi3k subunit p85 in regulation of actin organization and cell migration
Signaling by GPCR
Stearate biosynthesis
Superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
Superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
Surfactant metabolism
Synthesis of PIPs at the plasma membrane
Synthesis of very long-chain fatty acyl-CoAs
The NLRP3 inflammasome
Tryptophan degradation
Vesicle-mediated transport
Vesicle-mediated transport
Viral Acute Myocarditis
Vitamin B6-dependent and responsive disorders
VLDL assembly
XBP1(S) activates chaperone genes
Y branching of actin filaments
γ-linolenate biosynthesis
id not report any enriched trait
g the pathway name is the size of the reference gene set, the number and
ase of the pathway among the ones integrated in the CPDB, and the corresponding
Set size Candidates contained P-value Q-value

68 6 (12.2%) 2.48E-04 3.70E-02
44 5 (17.9%) 1.34E-04 3.70E-02
13 5 (50.0%) 6.15E-05 7.99E-02
8 3 (42.9%) 1.95E-04 4.89E-02
583 23 (5.3%) 1.89E-05 2.33E-03
9 3 (33.3%) 4.62E-04 4.11E-02
354 17 (6.3%) 2.63E-05 2.42E-03
437 21 (6.8%) 9.86E-07 1.82E-04
447 22 (6.6%) 7.76E-07 1.82E-04
16 4 (26.7%) 1.22E-04 4.89E-02
59 6 (12.0%) 2.77E-04 3.70E-02
65 6 (11.3%) 3.83E-04 4.09E-02
59 6 (12.0%) 2.77E-04 3.70E-02
15 3 (23.1%) 1.49E-03 7.24E-02
15 4 (30.8%) 3.03E-03 4.13E-01
20 3 (21.4%) 1.87E-03 7.68E-02
20 4 (28.6%) 4.08E-03 4.13E-01
3 2 (66.7%) 7.18E-03 4.31E-01
25 3 (14.3%) 6.23E-03 1.33E-01
55 4 (8.2%) 8.93E-03 1.59E-01
11 2 (22.2%) 9.27E-03 1.59E-01
9 2 (25.0%) 8.53E-03 1.78E-01
9 2 (22.2%) 9.27E-03 1.59E-01
138 8 (6.6%) 1.67E-03 1.05E-01
138 7 (5.7%) 4.35E-03 1.23E-01
138 13 (10.7%) 7.63E-03 4.31E-01
68 4 (8.2%) 8.93E-03 1.59E-01
44 4 (14.3%) 1.53E-03 1.05E-01
92 6 (8.5%) 1.82E-03 7.68E-02
15 3 (23.1%) 1.49E-03 7.24E-02
15 4 (30.8%) 3.03E-03 4.13E-01
13 3 (25.0%) 1.16E-03 7.24E-02
13 4 (33.3%) 2.19E-03 4.13E-01
105 6 (6.7%) 5.64E-03 1.33E-01
23 3 (14.3%) 4.90E-03 1.30E-01
23 3 (14.3%) 6.14E-03 1.47E-01
13 3 (30.0%) 6.42E-04 9.58E-02
13 3 (30.0%) 5.07E-04 1.05E-01
244 10 (4.8%) 4.61E-03 1.36E-01
17 3 (17.6%) 3.36E-03 9.49E-02
8 2 (25.0%) 8.61E-03 1.48E-01
8 3 (37.5%) 5.70E-03 4.13E-01
294 12 (4.8%) 2.16E-03 7.68E-02
294 11 (4.4%) 3.29E-03 1.17E-01
8 2 (28.6%) 5.53E-03 1.32E-01
8 3 (42.9%) 3.70E-03 4.13E-01
22 3 (14.3%) 6.14E-03 1.47E-01
13 3 (25.0%) 1.15E-03 9.58E-02
5 2 (40.0%) 3.16E-03 1.28E-01
19 3 (17.6%) 2.63E-03 1.05E-01
19 3 (17.6%) 3.31E-03 1.28E-01
19 4 (23.5%) 8.62E-03 4.31E-01
19 3 (17.6%) 2.63E-03 1.05E-01
19 3 (17.6%) 3.31E-03 1.28E-01
19 4 (23.5%) 8.62E-03 4.31E-01
159 5 (7.2%) 5.87E-03 1.34E-01
69 5 (7.9%) 5.59E-03 1.47E-01
69 9 (14.3%) 3.77E-03 4.13E-01
1176 32 (3.4%) 2.10E-03 1.22E-01
12 3 (25.0%) 9.06E-04 1.05E-01
19 3 (16.7%) 3.92E-03 1.36E-01
7 2 (28.6%) 6.54E-03 1.34E-01
15 3 (20.0%) 2.31E-03 7.71E-02
15 4 (26.7%) 5.35E-03 4.13E-01
65 5 (10.0%) 2.08E-03 7.68E-02
15 3 (23.1%) 1.49E-03 7.24E-02
74 5 (7.8%) 6.11E-03 1.33E-01
74 9 (14.1%) 4.20E-03 4.13E-01
124 7 (6.5%) 3.38E-03 9.49E-02
10 2 (25.0%) 8.61E-03 1.48E-01
23 3 (18.8%) 2.80E-03 8.81E-02
129 7 (6.1%) 7.69E-03 2.20E-01
23 3 (13.0%) 6.37E-03 1.38E-01
20 3 (15.8%) 3.66E-03 1.17E-01
4 2 (50.0%) 1.63E-03 1.05E-01
582 17 (3.3%) 5.17E-03 1.30E-01
7 2 (28.6%) 6.47E-03 1.48E-01
21 3 (15.8%) 3.66E-03 1.17E-01
21 3 (15.8%) 4.59E-03 1.36E-01
9 3 (33.3%) 8.24E-03 4.31E-01
168 9 (6.2%) 1.27E-03 7.24E-02
41 4 (11.1%) 4.00E-03 1.02E-01
41 6 (16.7%) 8.07E-03 4.31E-01
354 23 (8.6%) 8.03E-03 4.31E-01
437 27 (8.7%) 3.48E-03 4.13E-01
447 28 (8.4%) 4.62E-03 4.13E-01
16 3 (20.0%) 1.81E-03 1.05E-01
16 3 (20.0%) 2.28E-03 1.18E-01
16 4 (26.7%) 5.35E-03 4.13E-01
28 3 (11.5%) 9.02E-03 1.59E-01
31 4 (13.8%) 2.46E-03 1.22E-01
216 9 (4.8%) 7.25E-03 1.43E-01
16 3 (20.0%) 1.81E-03 1.05E-01
16 5 (33.3%) 5.95E-04 2.58E-01
84 5 (6.9%) 9.98E-03 1.60E-01
19 3 (15.8%) 5.97E-03 2.00E-01
68 9 (13.4%) 5.72E-03 4.13E-01
74 6 (8.6%) 2.65E-03 1.22E-01
74 10 (14.3%) 2.31E-03 4.13E-01
90 6 (8.0%) 2.35E-03 1.18E-01
37 4 (12.1%) 2.12E-03 1.05E-01
105 5 (7.9%) 5.72E-03 1.33E-01
22 3 (14.3%) 6.14E-03 1.47E-01
17 3 (17.6%) 2.63E-03 1.05E-01
1240 32 (3.2%) 4.50E-03 1.66E-01
13 3 (27.3%) 8.71E-04 9.58E-02
20 3 (16.7%) 3.98E-03 1.02E-01
20 5 (27.8%) 1.50E-03 4.13E-01
6 2 (50.0%) 2.31E-03 1.22E-01
53 4 (9.3%) 7.59E-03 1.45E-01
24 3 (15.8%) 4.59E-03 1.36E-01
10 2 (25.0%) 8.61E-03 1.48E-01
9 2 (28.6%) 7.77E-03 2.20E-01
620 18 (3.3%) 4.36E-03 1.23E-01
620 40 (7.4%) 8.42E-03 4.31E-01
76 5 (7.0%) 6.62E-03 1.38E-01
4 2 (50.0%) 1.63E-03 1.05E-01
5 2 (40.0%) 3.80E-03 1.56E-01
47 4 (9.5%) 6.86E-03 1.50E-01
17 3 (20.0%) 1.81E-03 1.05E-01
14 3 (25.0%) 1.15E-03 9.58E-02
14 3 (25.0%) 9.06E-04 1.05E-01
14 5 (41.7%) 1.78E-04 1.16E-01
Pathway source Gene Subset*
Reactome PP Possibly damaging
HumanCyc All Categories
HumanCyc PP Probably damaging
Reactome 2 ≤ GERP < 4
BioCarta PP Possibly damaging
Wikipathways 2 ≤ GERP < 4
KEGG 2 ≤ GERP < 4
EHMN PP Probably damaging
HumanCyc PP Possibly damaging
KEGG PP Possibly damaging
PharmGKB 4 ≤ GERP < 6
Wikipathways PP Probably damaging
Reactome PP Probably damaging
Reactome All Categories
EHMN 4 ≤ GERP < 6
HumanCyc 4 ≤ GERP < 6
KEGG PP Probably damaging
EHMN All Categories
BioCarta 4 ≤ GERP < 6
INOH PP Possibly damaging
BioCarta All Categories
PID PP Possibly damaging
KEGG All Categories
INOH PP Possibly damaging
EHMN 4 ≤ GERP < 6
BioCarta All Categories
Wikipathways PP Possibly damaging
Wikipathways All Categories
KEGG All Categories
EHMN 4 ≤ GERP < 6
EHMN All Categories
EHMN 4 ≤ GERP < 6
EHMN 4 ≤ GERP < 6
EHMN All Categories
KEGG 2 ≤ GERP < 4
KEGG All Categories
BioCarta PP Probably damaging
Table S8 Complete GO enrichment analysis results
All traits appearing in the enrichment analysis performed using GO as reference database, divided
details). Following the trait description is the size of the reference gene set, the expected number
observed genes divided by the number of expected genes), the p-value and false discovery rate (F
Criteria met
FDR < 0.05
p < 0.05 and

ratio higher
than mean
ratio
8 Complete GO enrichment analysis results
s appearing in the enrichment analysis performed using GO as reference database, divided according to the
Following the trait description is the size of the reference gene set, the expected number of set genes in the
d genes divided by the number of expected genes), the p-value and false discovery rate (FDR) of the enrich
Description
Detection Of Chemical Stimulus Involved In Sensory Perception
Detection Of Chemical Stimulus Involved In Sensory Perception Of Smell
Sensory Perception Of Chemical Stimulus
Sensory Perception Of Smell
10-Formyltetrahydrofolate Metabolic Process
Cellular Response To Lipoprotein Particle Stimulus
Cellular Response To Low-Density Lipoprotein Particle Stimulus
Cholesterol Efflux
Cholesterol Homeostasis
Cholesterol Transport
Lipid Transport
Negative Regulation Of Inclusion Body Assembly
Positive Regulation Of Lipid Localization
Positive Regulation Of Neuron Migration
Positive Regulation Of Voltage-Gated Calcium Channel Activity
Positive Regulation Of Voltage-Gated Calcium Channel Activity
Response To Fluid Shear Stress
Response To Lipoprotein Particle
Sensory Perception Of Sweet Taste
Sensory Perception Of Umami Taste
Sterol Homeostasis
T-Helper 1 Cell Cytokine Production
Trigeminal Ganglion Development
Actin Filament-Based Process
Biological Adhesion
Cell Adhesion
Cellular Response To Topologically Incorrect Protein
Cellular Response To Topologically Incorrect Protein
Cytoskeleton Organization
Cytoskeleton Organization
Dendritic Cell Migration
Dendritic Cell Migration
Detection Of Chemical Stimulus
Detection Of Stimulus
Detection Of Stimulus Involved In Sensory Perception
Glycerolipid Catabolic Process
Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules
Long-Chain Fatty-Acyl-Coa Biosynthetic Process
Maturation Of Ssu-Rrna
Membrane Organization
Phosphatidylinositol Dephosphorylation
Phospholipid Dephosphorylation
Photoreceptor Cell Maintenance
Positive Regulation Of Calcium Ion Transmembrane Transport
Positive Regulation Of Calcium Ion Transmembrane Transporter Activity
Positive Regulation Of Calcium Ion Transmembrane Transporter Activity
Positive Regulation Of Interleukin-1 Beta Production
Positive Regulation Of Interleukin-1 Beta Secretion
Positive Regulation Of Interleukin-1 Secretion
Protein Polymerization
Regulation Of Inclusion Body Assembly
Regulation Of Interleukin-1 Beta Production
Regulation Of Interleukin-1 Beta Secretion
Regulation Of Non-Motile Cilium Assembly
Regulation Of Protein Polymerization
Sensory Perception
Supramolecular Fiber Organization
T Cell Mediated Cytotoxicity
T Cell Mediated Cytotoxicity
Tube Development
ding to the significance criteria met (see Materials and Methods for
genes in the observed sample, the ratio of enrichment (number of
f the enrichment, and the corresponding gene subset.
Size Expect Ratio P Value FDR

333 6.359 2.988 2.20E-05 4.75E-02
293 5.595 3.396 3.56E-06 1.53E-02
375 7.161 2.933 1.07E-05 3.09E-02
314 5.996 3.502 6.52E-03 5.62E-03
5 0.091 22.045 3.16E-03 1.00E+00
27 0.026 77.880 2.89E-04 8.31E-01
17 0.016 123.690 1.13E-04 8.31E-01
40 0.038 52.569 6.38E-04 1.00E+00
66 0.063 31.860 1.73E-03 1.00E+00
77 0.073 27.309 2.35E-03 1.00E+00
296 0.282 10.656 2.45E-03 1.00E+00
10 0.188 15.955 7.15E-04 1.00E+00
71 0.068 29.616 2.00E-03 1.00E+00
10 0.181 16.534 6.44E-04 1.00E+00
11 0.200 15.031 8.74E-04 1.00E+00
11 0.207 14.504 9.70E-04 1.00E+00
32 0.030 65.712 4.08E-04 8.79E-01
25 0.024 84.111 2.47E-04 8.31E-01
5 0.091 22.045 3.16E-03 1.00E+00
5 0.091 22.045 3.16E-03 1.00E+00
66 0.063 31.860 1.73E-03 1.00E+00
7 0.122 24.509 1.75E-04 3.64E-01
5 0.091 22.045 3.16E-03 1.00E+00
610 11.470 2.005 1.20E-03 1.00E+00
1179 58.657 1.415 7.09E-04 6.13E-01
1172 58.308 1.406 9.18E-04 6.13E-01
130 6.468 2.629 2.42E-04 6.13E-01
130 2.444 3.273 3.17E-03 1.00E+00
1082 53.831 1.505 1.20E-04 5.19E-01
1082 19.632 1.834 2.80E-04 1.00E+00
27 1.343 5.956 3.44E-05 2.97E-01
27 0.508 7.879 1.52E-03 1.00E+00
360 6.875 2.764 6.36E-05 1.10E-01
511 9.758 2.255 3.28E-04 4.04E-01
376 7.180 2.646 1.13E-04 1.62E-01
54 1.031 5.819 5.48E-04 5.91E-01
143 2.689 3.347 1.53E-03 1.00E+00
16 0.301 9.972 3.07E-03 1.00E+00
40 0.699 7.149 6.26E-04 3.70E-01
657 12.354 1.943 1.45E-03 1.00E+00
18 0.315 12.709 2.30E-04 3.64E-01
19 0.332 12.040 2.87E-04 3.64E-01
32 1.592 4.397 8.27E-04 6.13E-01
55 0.998 5.010 3.14E-03 1.00E+00
27 0.490 8.165 1.34E-03 1.00E+00
27 0.508 7.879 1.52E-03 1.00E+00
36 0.630 7.943 3.80E-04 3.64E-01
28 0.490 10.212 1.11E-04 3.64E-01
32 0.560 8.936 2.15E-04 3.64E-01
223 11.095 2.073 7.48E-04 6.13E-01
15 0.282 10.637 2.53E-03 1.00E+00
55 0.962 6.239 3.80E-04 3.64E-01
36 0.630 7.943 3.80E-04 3.64E-01
12 0.229 13.092 1.33E-03 1.00E+00
170 8.458 2.247 8.05E-04 6.13E-01
741 14.150 1.908 9.63E-04 9.23E-01
541 26.915 1.635 9.01E-04 6.13E-01
40 1.990 4.020 6.72E-04 6.13E-01
40 0.699 8.578 6.26E-05 3.64E-01
848 15.387 1.755 3.14E-03 1.00E+00
Gene subset
2 ≤ GERP < 4
2 ≤ GERP < 4
2 ≤ GERP < 4
2 ≤ GERP < 4
4 ≤ GERP < 6
GERP ≥ 6
GERP ≥ 6
GERP ≥ 6
GERP ≥ 6
GERP ≥ 6
GERP ≥ 6
GERP ≥ 6
4 ≤ GERP < 6
4 ≤ GERP < 6
GERP ≥ 6
GERP ≥ 6
4 ≤ GERP < 6
4 ≤ GERP < 6
GERP ≥ 6
4 ≤ GERP < 6
All Categories
All Categories
All Categories
All Categories
4 ≤ GERP < 6
All Categories
2 ≤ GERP < 4
2 ≤ GERP < 4
2 ≤ GERP < 4
2 ≤ GERP < 4
All Categories
4 ≤ GERP < 6
4 ≤ GERP < 6
All Categories
2 ≤ GERP < 4
All Categories
2 ≤ GERP < 4
All Categories
All Categories
4 ≤ GERP < 6
Table S9 Peaks in the Fst distribution associated with bone-related traits
Peaks are defined as regions where one SNP with a top 1% Fst value has one or more top 1% SNP
groupings of highly differentiated variants, most times in the same gene. In these peaks, we found
conditions both in the GWAS catalog and in the literature. Each delimited row states a peak, with
the top1% Fst SNPs contained in the peak, their genomic consequence according to dbSNP, their
the allele frequency in each of the two Tunisian populations, Imazighen (TA) and non-Imazighen
associated with the corresponding gene, and a reference study associating the gene with the trait.
Gene Chromosome Position SNP ID
1 161475750 rs10494360
FCGR2A 1 161476204 rs9427397
1 161476205 rs9427398
11 4968117 rs10494360
MMP26
11 4968131 rs9427397
2 102968075 rs4988957
IL18R1 / 2 102968115 rs114130235

IL1RL1
2 102968211 rs10192036
2 102968212 rs10204137
17 48539763 rs2277631
17 48541491 rs2277629
CHAD /
ACSF2
17 48545596 rs34864120
17 48549791 rs2305998
a. Ellinghaus, D., Jostins, L., Spain, S. L., Cortes, A., Bethune, J., Han, B., Park, Y. R., Raychaudh
b. Pasternak, B. and Aspenberg, P. (2009) Metalloproteinases and their inhibitorsdiagnostic and the
c. Omair, A., Lie, B. A., Reikeras, O. and Brox, J. I. (2012) An Association Study of Interleukin 18
d. Hessle, L., Stordalen, G. A., Wenglén, C., Petzold, C., Tanner, E. K., Brorson, S. H., Baekkevold
ne-related traits
st value has one or more top 1% SNP at a distance of 10kb or less, and which include
same gene. In these peaks, we found several genes which have been related to bone
ach delimited row states a peak, with its corresponding gene, the genetic location and ID of
nsequence according to dbSNP, their clinical significance according to ClinVar (if reported),
Imazighen (TA) and non-Imazighen (TNA), the GWAS catalog bone-related traits
y associating the gene with the trait.
Genomic Clinical significance Allelic frequencies

consequence (ClinVar)
TA TNA
intron variant not reparted (A) 0.36 (A) 0.09
stop gained benign (T) 0.36 (T) 0.09
missense variant benign (G) 0.36 (G) 0.11
missense variant not reported (A) 0.47 (A) 0.05
missense variant benign (T) 0.47 (T) 0.03
missense variant not reported (C) 0.36 (C) 0.65
missense variant not reported (A) 0.17 (A) 0
missense variant not reported (A) 0.64 (A) 0.35
missense variant not reported (G) 0.36 (G) 0.65
intron variant not reported (A) 0.64 (A) 0.34
intron variant not reported (G) 0.64 (G) 0.36
missense variant /
not reported (A) 0.64 (A) 0.36
intron variant
synonymous variant not reported (G) 0.64 (G) 0.34

thune, J., Han, B., Park, Y. R., Raychaudhuri, S., Pouget, J. G., Hübenthal, M., et al. (2016) Analysis of five chronic inflamm
nases and their inhibitorsdiagnostic and therapeutic opportunities in orthopedics. Metalloproteinases and their inhibitorsdiagn
12) An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration. Open Or
Tanner, E. K., Brorson, S. H., Baekkevold, E. S., Önnerfjord, P., Reinholt, F. P. and Heinegård, D. (2013) The Skeletal Phen
Literature reference
GWAS catalog bone-related traits example
(reported trait)
Ankylosing spondilitis Ellinghaus et al, 2016a

Primary scoliosis cholanguitis (Ankylosing spondylitis)
Pasternak et al, 2009b

(Disc disease, idiopathic
Adolescent idiopathic scoliosis
scoliosis, ankylosing
spondyitis)
Adolescent idiopathic scoliosis Omair et al, 2012c

Atypical femoral fracture (hand osteoarthritis, lumbar
Ankylosing spondylitis disc degenetartion)
Height Hessle et al, 2013d

Heel bone mineral density (skeletal phenotype)
ysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared lo
ses and their inhibitorsdiagnostic and therapeutic opportunities in orthopedics. Acta Orthop. (2009) , 80, 693–703.
Disc Degeneration. Open Orthop. J., 6, 164–171.
D. (2013) The Skeletal Phenotype of Chondroadherin Deficient Mice. PLoS One, 8, 63080.
pecific patterns at shared loci. Nat. Genet., 48, 510–518.
9) , 80, 693–703.
Table S10 Linkage disequilibrium in peaks in the Fst distribution associated with bone-rela
Linkage disequilibrium measured as r2 between pairs of SNPs forming the peaks in the Fst distrib
measured in a different set of individuals: all of the individuals in the dataset, only Tunisian Ama
population, each delimited row states a peak, with its corresponding gene. Within each peak, row
Nan indicates that VCFtools was not able to output an r2 for the corresponding pair of SNPs.
Population Gene Chromosome

1
FCGR2A 1
1
MMP26 11
2
2
2
IL18R1 / IL1RL1
GENERAL 2
DATASET 2
2
17
17
17
CHAD / ACSF2
17
17
17
1
FCGR2A 1
1
MMP26 11
2
2
2
IL18R1 / IL1RL1
TUNISIAN 2
AMAZIGH 2
2
17
17
17
CHAD / ACSF2
17
17
17
1
FCGR2A 1
1
MMP26 11
2
2
2
IL18R1 / IL1RL1
TUNISIAN NON- 2
AMAZIGH 2
2
17
17
17
CHAD / ACSF2
17
17
17
distribution associated with bone-related traits
NPs forming the peaks in the Fst distribution (see Table S9). Each section states the linkage disequilibrium
duals in the dataset, only Tunisian Amazigh individuals, or only Tunisian non-Amazigh individuals. Within
esponding gene. Within each peak, rows state pairs of SNPs inside the peak, with their genetic location and
or the corresponding pair of SNPs.
Position 1 Position 2 r2
161475750 161476204 0.985809
161475750 161476205 0.870457
161476204 161476205 0.883772
4968117 4968131 0.899633
102968075 102968115 0.0175606
102968075 102968211 0.995025
102968075 102968212 0.995025
102968115 102968211 0.017759
102968115 102968212 0.017759
102968211 102968212 1
48539763 48541491 0.948931
48539763 48545596 0.948931
48539763 48549791 0.986552
48541491 48545596 1
48541491 48549791 0.949686
48545596 48549791 0.949686
161475750 161476204 1
161475750 161476205 1
161476204 161476205 1
4968117 4968131 1
102968075 102968115 0.119221
102968075 102968211 1
102968075 102968212 1
102968115 102968211 0.119221
102968115 102968212 0.119221
102968211 102968212 1
48539763 48541491 1
48539763 48545596 1
48539763 48549791 1
48541491 48545596 1
48541491 48549791 1
48545596 48549791 1
161475750 161476204 1
161475750 161476205 0.80674
161476204 161476205 0.80674
4968117 4968131 0.704252
102968075 102968115 nan
102968075 102968211 1
102968075 102968212 1
102968115 102968211 nan
102968115 102968212 nan
102968211 102968212 1
48539763 48541491 0.918222
48539763 48545596 0.918222
48539763 48549791 1
48541491 48545596 1
48541491 48549791 0.918222
48545596 48549791 0.918222
e linkage disequilibrium
azigh individuals. Within each
their genetic location and the r2.
Table S11 SNPs with large frequency difference between Tunisian Imazighen and non-Imaz
GERP RS scores, and possible biomedical implications
For each SNP, the table shows the related gene, its ID, the associated GERP RS score, its genomi
according to dbSNP, its clinical significance according to ClinVar(if reported) and the allele frequ
the two Tunisian populations, Imazighen (TA) and non-Imazighen (TNA). Then, there are reporte
catalog traits associated with the corresponding gene.
GERP RS Genomic
Gene SNP ID
score consequence
KCNMB3 rs7645550 6.08 missense variant
COMMD10 rs146988130 6.02 missense variant
RP11-389C8.2
rs13188519 5.87 missense variant
ZNF366
RP11-389C8.2
ZNF366
ZNF366 rs142021145 5.94 missense variant
PPP1R3A rs1799999 5.64 missense variant
RNASEH2B rs75184679 5.78 missense variant
AC003665.1
PNPO
RP11-6N17.6
RP11-6N17.9
AC003665.1
PNPO
RP11-6N17.6
RP11-6N17.9
DSG1 missense variant /
rs3752095 5.76
RP11-534N16.1 intron variant
R3HDM1
RNU6-512P
LRRC15 rs13070515 5.15 missense variant

isian Imazighen and non-Imazighen, high
ated GERP RS score, its genomic consequence

r(if reported) and the allele frequency in each of
n (TNA). Then, there are reported the GWAS
Clinical significance Allelic frequencies

GWAS catalog traits
(ClinVar) TA TNA
HIV infection
Trypanosoma cruzy
not reported (T) 0.08 (T) 0.34 seropositivity
Response to
antidepressant
Amyotrophic lateral
sclerosis
Chronic obstructive
pulmonary disease
Asthma
Facial morphology
Granulomatosis with
not reported (G) 0.22 (G) 0 Polyangiitis
Hidroxy leucine
Neuroticism
Schizofrenia
Bipolar disorder
Serum IgG glycosylation
Age at onset myopia
Asthma
Femoral neck bone
mineral density
Heel bone mineral
not reported (C) 0.36 (C) 0.07
density
Hip geometry
not reported (C) 0.36 (C) 0.07
Intraocular pressure
Monocte count
Rheumatoid arthritis
Unipolar depression
Neuroticism
Age at onset myopia
Asthma
Femoral neck bone
mineral density
Heel bone mineral
density
Hip geometry
Intraocular pressure
Monocte count
Unipolar depression
Neuroticism
BMI
insulin resistance, Body height

susceptibility to (A) 0.31 (A) 0.08
risk-Factor Grip strength
Schizofrenia
Cigarettes per day
Benign prostatic
hyperplasia
Aicardi-Goutières
syndrome 2 Lower urinary tract
(A) 0.25 (A) 0
pathogenic-likely- symptom
pathogenic
Prostatic specific antigen
pyridoxal 5'-phosphate- BMI

dependent epilepsy
(A) 0.25 (A) 0.04
seizures
likely-benign
pyridoxal 5'-phosphate- BMI
dependent epilepsy
(A) 0.25 (A) 0.04
seizures
likely-benign
Epilepsy
Colorectal health
Coronary artery
calcification
Diabetes type II
Eosinophilic esophagitis
Multiple sclerosis
benign (T) 0.47 (T) 0.15
Postburn hypertrophic
scarring
Quality of life during
menstruation
Vaginal yeast infection
susceptibility
TNF related apoptosis
inducing ligand
Blood protein
BMI
not reported (C) 0 (C) 0.24 Grip strength
Mosquito bite reaction
size
Neutrophil count
not reported (A) 0.31 (A) 0.05 Blood protein

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The impact of demography in functional variation: whole-exome analysis in Tun

Marcel Lucas-Sánchez1, Neus Font-Porterias1, Francesc Calafell1, Karima Fadhlaoui-

ell1, Karima Fadhlaoui-Zid2,3, David Comas1,*

ra), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelon

Population Per-individual segregating sites

Population specific per-individual segregating sites

1 3.14x10-09 *** < 2.2x10-16 *** < 2.2x10-16 ***

2 0.11 4.69x10-06 *** < 2.2x10-16 ***

3 1.05x10-07 *** < 2.2x10-16 *** < 2.2x10-16 ***

4 6.26x10-08 *** < 2.2x10-16 *** < 2.2x10-16 ***

5 1.13x10-08 *** < 2.2x10-16 *** < 2.2x10-16 ***

6 5.01x10-12 *** < 2.2x10-16 *** < 2.2x10-16 ***

7 3.48x10-3 ** < 2.2x10-16 *** < 2.2x10-16 ***

8 0.39 < 2.2x10-16 *** < 2.2x10-16 ***

9 0.30 < 2.2x10-16 *** 2.94 x10-6 ***

Neutral to Non- Neutral to Moderate to

0.87 9.05x10-10 *** < 2.2x10-16 *** < 2.2x10-16 ***

As named in the corresponding database.

Traits, pathways or diseases matching the significance criteria a

Hypercholesterolemia, familial; Hypertension, essential; Lung canceralveolar

Detection of stimulus involved in sensory perception of smell; Cholesterol

Height; Blood protein levels; Body mass index; Adolescent idiopathic

Collagen biosynthesis and modifying enzymes; Collagen chain trimerization;

FDR < 0.05

p < 0.05 and ratio

*GERP ≥ 6 did not report any enriched trait

Size Expect Ratio P-Value FDR

OMIM entry Gene

Prostate cancer MSR1

Alcohol dependance ADH1C

Diabetes mellitus, insulin-

Obesity - Leanness included AGRP

Sytemic lupus Erythematosus /

rs200030513 No missense variant

rs142477138 No missense variant

rs148076421 No missense variant

rs761800648 No missense variant

rs2073852 No missense variant

4:100260782a No missense variant

rs1378202090 No intron variant

rs201047812 No missense variant

rs17860405 No missense variant

4:100260782a No missense variant

rs1799999 No missense variant

rs34746672 No missense variant

rs1801208 No missense variant

rs146445859 No missense variant

rs5030980 Yes missense variant

rs147847330 No missense variant

rs4986940 No missense variant

rs908373952 No missense variant

FS1-Related Spectrum Disorders

Derived allele frequency (derived

not reported (T) 0.14 (T) 0

not reported (A) 0.06 (A) 0

not reported (T) 0.06 (T) 0

not reported (G) 0.06 (G) 0

not reported (A) 0.14 (A) 0

not reported (T) 0.06 (T) 0

benign (G) 0.11 (G) 0.01

not reported (A) 0.14 (A) 0

risk factorb (A) 0.31 (A) 0.08

1 3.14x10-09 * < 2.2x10-16 * < 2.2x10-16 ***

2 0.11 4.69x10-06 * < 2.2x10-16 *

3 1.05x10-07 * < 2.2x10-16 * < 2.2x10-16 ***

4 6.26x10-08 * < 2.2x10-16 * < 2.2x10-16 ***

5 1.13x10-08 * < 2.2x10-16 * < 2.2x10-16 ***

6 5.01x10-12 * < 2.2x10-16 * < 2.2x10-16 ***

7 3.48x10-3 < 2.2x10-16 * < 2.2x10-16 ***

8 0.39 < 2.2x10-16 * < 2.2x10-16 *

9 0.30 < 2.2x10-16 * 2.94 x10-6 *

0.87 9.05x10-10 * < 2.2x10-16 * < 2.2x10-16 ***