Abf8683 TablesS1toS21

Table S1. Baseline characteristics of individuals included in the exome-wide association study.
Abbreviations: UKB, UK Biobank; GHS, Geisinger Health System; MCPS, Mexico City Prospective Study; SD, standard deviation; N, number of participants; W
mercury.
UKB study GHS study MCPS study
Variable
(N=428,719) (N=121,061) (N=95,846)
Age, mean (SD) in years 57 (8) 53 (17) 52 (13)
Women, N (%) 232,553 (54) 73,769 (61) 65,330 (68)
Body mass index, mean (SD) in
27.4 (4.8) 31.1 (7.3) 29.1 (5.1)
kg/m2
Body weight, mean (SD) in kg 78 (16) 88 (23) 70 (14)
Body mass index WHO categories,
N (%)
Underweight
2,089 (0.49) 994 (0.82) 499 (0.52)
(< 18.5 kg/m2)
Healthy weight
140,175 (32.70) 23,784 (19.65) 18,599 (19.41)
(18.5 to < 25 kg/m2)
Overweight
182,564 (42.58) 35,787 (29.56) 40,672 (42.43)
(25 to < 30 kg/m2)
Obesity, non-severe
95,928 (22.37) 46,067 (38.05) 33,203 (34.64)
(30 to < 40 kg/m2)
Severe obesity
7,963 (1.86) 14,429 (11.92) 2,873 (3.00)
(≤ 40 kg/m2)
Blood pressure, mean (SD) in
mmHg
Systolic 138 (19) 124 (11) 127 (17)
Diastolic 82 (11) 74 (7) 83 (10)
Low-density lipoprotein
138 (34) 107 (29) Not measured
cholesterol, mean (SD) in mg/dL
Triglycerides, median (IQR) in
132 (93, 191) 124 (90, 172) Not measured
mg/dL
on; N, number of participants; WHO, World Health Organization; IQR, interquartile range; kg/m2, kilograms per square meter; mg/dL, milligrams per deciliter; mmHg, mi
milligrams per deciliter; mmHg, millimeters of
Table S2. Association results in the UKB, GHS and MCPS cohorts for the 16 genes associated with body mass index in the exome-wide gene burden
Abbreviations: CI, confidence intervals; SD, standard deviation; BMI, body mass index; AAF, alternative allele frequency; RR, reference-reference geno
Prospective Study.
Gene Genetic exposure, variant type; allele frequency cut-off in % Study Beta (95% CI) per allele in SD units of BMI
-0.06
UHMK1 pLOF plus deleterious missense (5/5); AAF < 1% UKB (-0.08, -0.03)
-0.02
UHMK1 pLOF plus deleterious missense (5/5); AAF < 1% MCPS (-0.17, 0.12)
UHMK1 pLOF plus deleterious missense (5/5); AAF < 1% GHS -0.10
(-0.15, -0.05)
-0.34
GPR75 pLOF; AAF < 1% UKB
(-0.49, -0.19)
-0.48
GPR75 pLOF; AAF < 1% MCPS
(-0.82, -0.13)
GPR75 pLOF; AAF < 1% GHS -0.27

(-0.52, -0.02)
ROBO1 pLOF; AAF < 1% UKB 0.25

(0.14, 0.35)
ROBO1 pLOF; AAF < 1% MCPS 0.18

(-0.06, 0.42)
0.23
ROBO1 pLOF; AAF < 1% GHS (0.05, 0.41)
0.15
KIAA1109 pLOF; AAF < 1% UKB
(0.1, 0.21)
0.11
KIAA1109 pLOF; AAF < 1% MCPS (-0.01, 0.23)
0.07
KIAA1109 pLOF; AAF < 1% GHS
(-0.05, 0.20)
0.30
PCSK1 pLOF; AAF < 1% UKB (0.16, 0.45)
0.24
PCSK1 pLOF; AAF < 1% MCPS
(-0.18, 0.65)
0.38
PCSK1 pLOF; AAF < 1% GHS
(0.19, 0.57)
-0.06
GPR151 pLOF plus deleterious missense (5/5); AAF < 1% UKB
(-0.08, -0.04)
-0.01
GPR151 pLOF plus deleterious missense (5/5); AAF < 1% MCPS
(-0.07, 0.05)
-0.02
GPR151 pLOF plus deleterious missense (5/5); AAF < 1% GHS (-0.06, 0.02)
SPARC pLOF plus deleterious missense (1/5); AAF < 1% UKB 0.06
(0.04, 0.07)
SPARC pLOF plus deleterious missense (1/5); AAF < 1% MCPS -0.01
(-0.06, 0.03)
0.06
SPARC pLOF plus deleterious missense (1/5); AAF < 1% GHS
(0.03, 0.09)
0.41
UBR2 pLOF; AAF < 1% UKB
(0.26, 0.55)
UBR2 pLOF; AAF < 1% MCPS 0.09

(-0.4, 0.58)
UBR2 pLOF; AAF < 1% GHS 0.27

(0.10, 0.45)
0.06
CALCR pLOF plus deleterious missense (1/5); AAF < 0.1% UKB (0.04, 0.09)
0.09
CALCR pLOF plus deleterious missense (1/5); AAF < 0.1% MCPS (0.02, 0.16)
CALCR pLOF plus deleterious missense (1/5); AAF < 0.1% GHS 0.17
(0.11, 0.22)
PDE3B pLOF; AAF < 1% UKB 0.10

(0.05, 0.16)
0.44
PDE3B pLOF; AAF < 1% MCPS
(0.24, 0.64)
0.10
PDE3B pLOF; AAF < 1% GHS
(-0.01, 0.22)
ANO4 pLOF; AAF < 1% UKB 0.25

(0.12, 0.38)
0.25
ANO4 pLOF; AAF < 1% MCPS (-0.08, 0.58)
0.34
ANO4 pLOF; AAF < 1% GHS
(0.19, 0.49)
-0.04
KIAA0586 pLOF plus deleterious missense (5/5); AAF < 1% UKB
(-0.05, -0.02)
-0.01
KIAA0586 pLOF plus deleterious missense (5/5); AAF < 1% MCPS (-0.07, 0.04)
-0.05
KIAA0586 pLOF plus deleterious missense (5/5); AAF < 1% GHS
(-0.08, -0.02)
0.29
MC4R pLOF plus deleterious missense (5/5); AAF < 1% UKB (0.24, 0.34)
0.27
MC4R pLOF plus deleterious missense (5/5); AAF < 1% MCPS (0.16, 0.37)
0.34
MC4R pLOF plus deleterious missense (5/5); AAF < 1% GHS
(0.26, 0.42)
-0.07
DPP9 pLOF plus deleterious missense (5/5); AAF < 1% UKB
(-0.10, -0.05)
0.01
DPP9 pLOF plus deleterious missense (5/5); AAF < 1% MCPS (-0.07, 0.09)
DPP9 pLOF plus deleterious missense (5/5); AAF < 1% GHS -0.04
(-0.08, 0.00)
ANKRD27 pLOF plus deleterious missense (1/5); AAF < 1% UKB 0.04
(0.03, 0.06)
-0.01
ANKRD27 pLOF plus deleterious missense (1/5); AAF < 1% MCPS
(-0.05, 0.03)
ANKRD27 pLOF plus deleterious missense (1/5); AAF < 1% GHS 0.04
(0.01, 0.07)
GIPR pLOF plus deleterious missense (1/5); AAF < 1% UKB -0.07
(-0.10, -0.05)
GIPR pLOF plus deleterious missense (1/5); AAF < 1% MCPS -0.09
(-0.14, -0.03)
-0.12
GIPR pLOF plus deleterious missense (1/5); AAF < 1% GHS (-0.17, -0.08)
n the exome-wide gene burden analysis.
y; RR, reference-reference genotype; RA, reference-alternative heterozygous genotype; AA, alternative-alternative homozygous genotype; pLOF, predicted loss of fu
p AAF, fraction of 1 Genotype counts, RR|RA|AA genotypes
2.2E-05 0.0056 423,919|4,790|10
7.6E-01 0.0009 95,674|172|0
1.6E-04 0.0048 119,906|1,155|0
6.6E-06 0.0002 428,572|147|0
7.1E-03 0.0002 95,816|30|0
3.6E-02 0.0002 121,010|51|0
4.0E-06 0.0003 428,432|287|0
1.4E-01 0.0003 95,784|62|0
1.3E-02 0.0004 120,966|95|0
3.0E-07 0.0011 427,799|920|0
6.5E-02 0.0013 95,593|253|0
2.3E-01 0.0009 120,846|215|0
4.2E-05 0.0002 428,569|150|0
2.6E-01 0.0001 95,825|21|0
8.9E-05 0.0004 120,974|87|0
4.5E-10 0.0109 419,377|9,303|39
7.7E-01 0.0057 94,749|1,094|3
4.4E-01 0.0082 119,083|1,975|3
4.3E-09 0.0111 419,206|9,489|24
6.4E-01 0.0092 94,094|1,750|2
1.6E-04 0.0135 117,794|3,255|12
1.0E-07 0.0002 428,576|143|0
7.2E-01 0.0001 95,831|15|0
2.1E-03 0.0004 120,956|105|0
6.6E-06 0.0049 424,507|4,212|0

7.0E-03 0.0044 94,999|845|2
4.5E-10 0.0048 119,910|1,151|0
6.9E-05 0.0014 427,508|1,211|0
2.1E-05 0.0005 95,758|88|0
6.6E-02 0.001 120,808|253|0
1.1E-04 0.0002 428,523|196|0
1.4E-01 0.0002 95,813|33|0
4.9E-06 0.0006 120,912|149|0
1.1E-04 0.0113 419,014|9,697|8
6.4E-01 0.006 94,694|1,150|2
3.6E-04 0.0165 117,061|3,997|3
4.5E-28 0.0014 427,498|1,221|0
4.5E-07 0.0018 95,508|337|1
1.6E-16 0.002 120,583|478|0
9.0E-09 0.0062 423,427|5,281|11
8.2E-01 0.0031 95,260|583|3
7.9E-02 0.0066 119,454|1,605|2
2.9E-08 0.0177 413,568|15,125|26
6.5E-01 0.0135 93,254|2,587|5
2.6E-03 0.0178 116,750|4,304|7
3.6E-10 0.0069 422,820|5,893|6
1.2E-03 0.0068 94,542|1,302|2
1.3E-08 0.0072 119,318|1,742|1

genotype; pLOF, predicted loss of function; UKB, UK Biobank; GHS, Geisinger Health System MyCode study; MCPS, Mexico City
Table S3. Association with body mass index of GPR75 pLOF variants within age and sex subgroups.
Abbreviations: Confidence interval, CI; standard deviation, SD; body mass index, BMI; alternative allele frequency, AAF; P-value, p; reference-reference ge
Genetic exposure, variant

Group Beta (95% CI) per allele in SD units of BMI
type; frequency cutoff in %
Age ≤ median value in -0.33

GPR75 pLOF; AAF < 1% cohort (-0.50, -0.17)
Age > median value in -0.35
GPR75 pLOF; AAF < 1%
cohort (-0.52, -0.18)
-0.35
GPR75 pLOF; AAF < 1% Men (-0.55, -0.16)
-0.33
GPR75 pLOF; AAF < 1% Women (-0.49, -0.18)
x subgroups.
ternative allele frequency, AAF; P-value, p; reference-reference genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA; kilograms per s
Genotype counts,
Beta (95% CI) per allele in kg/m2 units of BMI p AAF, fraction of 1
RR|RA|AA genotypes
-1.80
(-2.70, -0.89) 1.0E-04 0.0002 331,175|117|0
-1.90
7.8E-05 0.0002 314,223|111|0
(-2.80, -0.95)
-1.90
( -3.00, -0.86) 3.5E-04 0.0002 273,885|89|0
-1.80
(-2.60, -0.97) 2.4E-05 0.0002 371,513|139|0
A; alternative-alternative genotype, AA; kilograms per square meter, kg/m2; predicted loss of function, pLOF.
p-value for heterogeneity
in effect esitmates
between groups
0.93
0.91
Table S4. Association with risk of obesity for the 16 BMI-associated genes and for the two loss-of-function missense variants in GIPR.
Abbreviations: OR, odds ratio; CI, confidence intervals; P-value, p; AAF, alternative allele frequency; reference-reference genotype, RR; reference-alternati
Gene Genetic exposure, variant type; allele frequency cut-off in % Per-allele OR (95% CI) for obesity p
0.85
UHMK1 pLOF plus deleterious missense (5/5); AAF < 1% (0.79, 0.91) 7.5E-06
0.46
GPR75 pLOF; AAF < 1% 6.9E-05
(0.31, 0.67)
1.74
ROBO1 pLOF; AAF < 1% (1.33, 2.29) 5.9E-05
1.41
KIAA1109 pLOF; AAF < 1% (1.21, 1.65) 1.2E-05
2.26
PCSK1 pLOF; AAF < 1% (1.59, 3.23) 6.8E-06
0.89
GPR151 pLOF plus deleterious missense (5/5); AAF < 1% (0.85, 0.94) 1.4E-05
1.11
SPARC pLOF plus deleterious missense (1/5); AAF < 1% 8.4E-06
(1.06, 1.17)
2.29
UBR2 pLOF; AAF < 1% 1.3E-06
(1.64, 3.21)
1.2
CALCR pLOF plus deleterious missense (1/5); AAF < 0.1% (1.12, 1.29) 8.9E-07
1.37
PDE3B pLOF; AAF < 1% (1.18, 1.58) 2.6E-05
ANO4 pLOF; AAF < 1% 2.01 3.3E-06

(1.5, 2.71)
0.9
KIAA0586 pLOF plus deleterious missense (5/5); AAF < 1% 1.6E-05
(0.86, 0.95)
2.07
MC4R pLOF plus deleterious missense (5/5); AAF < 1% 5.1E-30
(1.82, 2.34)
0.9
DPP9 pLOF plus deleterious missense (5/5); AAF < 1% 3.1E-03
(0.85, 0.97)
ANKRD27 pLOF plus deleterious missense (1/5); AAF < 1% 1.08 6.7E-05
(1.04, 1.13)
0.82
GIPR pLOF plus deleterious missense (1/5); AAF < 1% (0.77, 0.87) 1.5E-10
19:45674762:G:A; 0.82
190Gln allele 7.4E-03
GIPR Arg190Gln (0.7, 0.95)
19:45677718:A:G; 0.74
GIPR Glu288Gly 288Gly allele (0.65, 0.84) 2.6E-06
variants in GIPR.
e genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA; pLOF, predicted loss of function. Results are from a meta-analysis of the UKB, G
Genotype counts Genotype counts
AAF, fraction of 1 (cases), RR|RA|AA (controls), RR|RA|AA
genotypes genotypes
0.0048 198,955|1,702|1 184,430|1,997|2
0.0002 200,613|45|0 186,335|94|0
0.0004 200,479|179|0 186,331|98|0
0.0011 200,180|478|0 186,092|337|0
0.0002 200,537|121|0 186,380|49|0
0.0096 197,171|3,476|11 182,523|3,886|20
0.0115 195,762|4,879|17 182,426|3,996|7
0.0002 200,528|130|0 186,374|55|0
0.0048 198,592|2,065|1 184,749|1,680|0
0.0012 200,118|540|0 186,011|418|0
0.0003 200,472|186|0 186,361|68|0
0.0117 196,110|4,544|4 181,948|4,478|3
0.0017 199,730|928|0 186,016|413|0
0.0059 198,437|2,214|7 184,089|2,336|4
0.0172 193,601|7,044|13 180,183|6,232|14
0.0068 198,184|2,472|2 183,641|2,784|4
0.0013 164,202|380|0 166,822|508|1
0.0017 200,126|531|1 185,681|745|2

e from a meta-analysis of the UKB, GHS and MCPS studies.
Table S5. Association of GPR75 pLOF variants with self-reported thinner than average comparative body size at age 10 in UKB.
Abbreviations: predicted loss of function, pLOF; UK Biobank, UKB; alternative allele frequency, AAF; confidence interval, CI; odds ratio, OR; P-value, p; refe
Genetic exposure, variant type; frequency cutoff in % Outcome
Responded "Thinner" to multiple choice question: "When you were

10 years old, compared to average would you describe yourself as:
GPR75 pLOF; AAF < 1% thinner, plumper, about average, do not know, prefer not to
answer?"
UKB.
odds ratio, OR; P-value, p; reference-reference genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA.
Genotype counts Genotype counts
AAF, fraction of 1 OR (95% CI) per allele p (cases), (controls),
RR|RA|AA
RR|RA|AA genotypes
genotypes
1.66
1.7E-04 (1.18, 2.34) 3.9E-03 141,442|62|0 282,026|82|0
AA.
Table S6. GPR75 predicted loss of function variants identified by exome-sequencing.
The Table lists the predicted loss of function (pLOF) variants in the GPR75 gene found by exome sequencing which contributed to the gene burden analysis
Abbreviations: chromosome, position, reference, alternative, CPRA; alternative allele frequency, AAF; complementary DNA, cDNA; human genome variatio
Variant (CPRA) AAF cDNA change HGVS Protein change HGVS
2:53853134:T:G 2.3E-06 c.1623A>C p.Ter541Tyrext*?
2:53853135:T:G 1.2E-06 c.1622A>C p.Ter541Serext*?
2:53853136:A:C 2.3E-06 c.1621T>G p.Ter541Gluext*?
2:53853200:GGT:G 7.6E-06 c.1555_1556delAC p.Thr519fs
2:53853245:GT:G 1.2E-06 c.1511delA p.Asn504fs
2:53853256:G:A 1.2E-06 c.1501C>T p.Gln501*
2:53853352:G:A 1.3E-05 c.1405C>T p.Gln469*
2:53853354:CCA:C 5.4E-05 c.1401_1402delTG p.Cys467fs
2:53853382:TG:T 1.8E-05 c.1374delC p.Lys459fs
2:53853502:T:A 5.8E-06 c.1255A>T p.Arg419*
2:53853535:G:A 1.4E-05 c.1222C>T p.Arg408*
2:53853547:T:A 1.0E-05 c.1210A>T p.Lys404*
2:53853560:G:GA 1.2E-06 c.1196dupT p.Cys400fs
2:53853641:GTT:G 9.0E-06 c.1114_1115delAA p.Asn372fs
2:53853680:CAATTCAAACTGGT:C 1.2E-06 c.1064_1076delACCAGTTTGAATT p.Tyr355fs
2:53853692:G:T 1.2E-06 c.1065C>A p.Tyr355*
2:53853730:G:A 3.5E-06 c.1027C>T p.Gln343*
2:53853771:G:C 2.1E-05 c.986C>G p.Ser329*
2:53853853:G:A 5.1E-06 c.904C>T p.Arg302*
2:53853877:G:A 7.3E-05 c.880C>T p.Gln294*
2:53853926:G:T 1.8E-05 c.831C>A p.Tyr277*
2:53853927:T:TA 1.2E-06 c.829dupT p.Tyr277fs
2:53853946:G:GT 2.3E-06 c.810_811insA p.Leu271fs
2:53853967:TGG:T 4.7E-06 c.788_789delCC p.Pro263fs
2:53854009:G:A 1.2E-06 c.748C>T p.Gln250*
2:53854037:A:AG 4.7E-06 c.719dupC p.Val241fs
2:53854045:ACTTT:A 1.7E-05 c.708_711delAAAG p.Arg236fs
2:53854051:T:A 9.3E-06 c.706A>T p.Arg236*
2:53854057:G:A 2.9E-05 c.700C>T p.Gln234*
2:53854078:G:A 5.2E-06 c.679C>T p.Gln227*
2:53854099:CAG:C 3.5E-06 c.656_657delCT p.Ser219fs
2:53854135:CAT:C 1.2E-06 c.620_621delAT p.Tyr207fs
2:53854137:TAGAG:T 1.7E-05 c.616_619delCTCT p.Leu206fs
2:53854306:G:A 1.2E-05 c.451C>T p.Gln151*
2:53854380:G:C 2.1E-06 c.377C>G p.Ser126*
2:53854409:A:AG 7.6E-06 c.347dupC p.Cys118fs
2:53854421:ACTACTGG:A 1.2E-05 c.329_335delCCAGTAG p.Ala110fs
2:53854474:C:A 1.2E-05 c.283G>T p.Gly95*
2:53854476:C:CA 1.2E-06 c.280dupT p.Cys94fs
2:53854485:AG:A 1.2E-06 c.271delC p.Leu91fs
2:53854644:TG:T 4.2E-05 c.112delC p.His38fs
2:53854685:TC:T 5.2E-06 c.71delG p.Gly24fs
2:53854695:G:T 1.2E-06 c.62C>A p.Ser21*
2:53854740:TG:T 1.2E-06 c.16delC p.His6fs
2:53854755:A:G 9.0E-06 c.2T>C p.Met1?
2:53859827:C:T 1.2E-06 c.-110+1G>A -
ntributed to the gene burden analysis. a Imputation INFO score values below 0.3 are typically considered to be of very low quality.
y DNA, cDNA; human genome variation society, HGVS.
Affected exon In genotyping array
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 2 No
Exon 1 No
O score values below 0.3 are typically considered to be of very low quality.
In raw imputed data

No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
Yes, but excluded after QC due to very low imputation quality
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
No
Imputation quality INFO score, fraction of 1a
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
0.007
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Table S7. No association with BMI for the burden of rare nonsynonymous variants in ASB3 or GPR75-ASB3.
Abbreviations: alternative allele frequency, AAF; confidence intervals, CI; standard deviation, SD; body mass index, BMI; kilograms per square meter, k
Genetic exposure, variant type; Beta (95% CI) per allele
Gene AAF, fraction of 1
frequency cutoff in % in SD units of BMI
-0.037
ASB3 pLOF; AAF < 1% 0.00015
(-0.17, 0.091)
ASB3 pLOF plus any missense; AAF < 0.1% 0.00467 -0.0081
(-0.031, 0.015)
-0.0069
ASB3 pLOF plus any missense; AAF < 1% 0.01375 (-0.021, 0.0068)
pLOF plus deleterious missense (5/5); -0.037
ASB3 0.00015
AAF < 0.1% (-0.17, 0.091)
ASB3 0.00015
AAF < 1% (-0.17, 0.091)
ASB3 AAF < 0.1% 0.00355 (-0.045, 0.0079)
ASB3 AAF < 1% 0.01150 (-0.026, 0.0039)
-0.039
GPR75-ASB3 pLOF; AAF < 1% 0.00015 (-0.17, 0.088)
-0.0096
GPR75-ASB3 pLOF plus any missense; AAF < 0.1% 0.00497
(-0.032, 0.013)
-0.0012
GPR75-ASB3 pLOF plus any missense; AAF < 1% 0.01565
(-0.014, 0.012)
GPR75-ASB3 0.00015
AAF < 0.1% (-0.17, 0.088)
GPR75-ASB3 AAF < 1% 0.00015 (-0.17, 0.088)
GPR75-ASB3 pLOF plus deleterious missense (1/5); 0.00385 -0.02

AAF < 0.1% (-0.046, 0.0056)
GPR75-ASB3 pLOF plus deleterious missense (1/5); 0.01319 -0.0045

AAF < 1% (-0.019, 0.0096)
kilograms per square meter, kg/m2; P-value, p; reference-reference genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA; predic
Beta (95% CI) per allele in Genotype counts, RR|
p
kg/m2 units of BMI RA|AA genotypes
-0.2
0.57 645,432|194|0
(-0.9, 0.49)
-0.044 0.50 639,601|6,023|2
(-0.17, 0.082)
-0.037
(-0.11, 0.037) 0.33 627,913|17,677|36
-0.2
0.57 645,432|194|0
(-0.9, 0.49)
-0.2
0.57 645,432|194|0
(-0.9, 0.49)
-0.1
(-0.25, 0.042) 0.17 641,041|4,583|2
-0.059
(-0.14, 0.021) 0.15 630,803|14,798|25
-0.21
(-0.89, 0.47) 0.55 645,426|200|0
-0.052
0.41 639,208|6,416|2
(-0.17, 0.071)
-0.0065
0.85 625,469|20,110|47
(-0.076, 0.063)
-0.21
0.55 645,426|200|0
(-0.89, 0.47)
-0.21
(-0.89, 0.47) 0.55 645,426|200|0
-0.11 0.13 640,655|4,969|2

(-0.25, 0.03)
-0.024 0.53 628,634|16,956|36
(-0.1, 0.052)
ernative-alternative genotype, AA; predicted loss of function, pLOF.
Table S8. Association with BMI of the burden of pLOF variants in GPR75 after adjusting for ASB3, GPR75-ASB3 and common variants genotypes in the re
Abbreviations: Confidence interval, CI; standard deviation, SD; body mass index, BMI; kilograms per square meter, kg/m2; P-value, p; alternative allele freq
Genetic exposure, variant type;

frequency cutoff in %

ith BMI of the burden of pLOF variants in GPR75 after adjusting for ASB3, GPR75-ASB3 and common variants genotypes in the region.
nce interval, CI; standard deviation, SD; body mass index, BMI; kilograms per square meter, kg/m2; P-value, p; alternative allele frequency, AAF; reference-reference geno
Additional covariates adjusted for in the analysis in addition to standard covariates*
ASB3 pLOF (AAF < 1%); ASB3 pLOF plus any missense (AAF < 0.1%); ASB3 pLOF plus any missense (AAF < 1%); ASB3 pLOF plus deleterious missense (5/5)
0.1%); ASB3 pLOF plus deleterious missense (5/5) (AAF < 1%); ASB3 pLOF plus deleterious missense (1/5) (AAF < 0.1%); ASB3 pLOF plus deleterious misse
(AAF < 1%); GPR75-ASB3 pLOF (AAF < 1%); GPR75-ASB3 pLOF plus any missense (AAF < 0.1%); GPR75-ASB3 pLOF plus any missense (AAF < 1%); GPR75-AS
plus deleterious missense (5/5) (AAF < 0.1%); GPR75-ASB3 pLOF plus deleterious missense (5/5) (AAF < 1%); GPR75-ASB3 pLOF plus deleterious missense (
< 0.1%); GPR75-ASB3 pLOF plus deleterious missense (1/5) (AAF < 1%)
26 common variants associated with BMI at the locus in Europeans (listed in Table S9)
genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA; predicted loss of function, pLOF. * standard covariates included all fine-mapped
Beta (95% CI) per Beta (95% CI) per allele
allele in SD units of p AAF, fraction of 1 Genotype counts, RR|RA|AA genotypes
in kg/m2 units of BMI
BMI
-0.34 -1.85
(-0.46, -0.22) (-2.50, -1.19) 3.1E-08 0.00018 645,398|228|0
-0.34 -1.85
3.1E-08 0.00018 645,398|228|0
(-0.46, -0.22) (-2.50, -1.19)
tandard covariates included all fine-mapped common variants from the GWAS analysis including rs59428052 near ASB3
Table S9. Common variants associated with BMI at the GPR75 locus.
The Table reports a list of 26 common variants which were associated with BMI at the genome-wide threshold of statistical significance (p<5×10-08) within
Abbreviations: chromosome, position, reference, alternative, CPRA; alternative allele frequency, AAF; posterior probability of causal association, PPA; linka
Sentinel
Variant (CPRA) dbSNP rsID AAF PPA variant in Nearest gene Annotation
credible set
2:53634252:A:G rs59428052 0.147 0.304 Yes ASB3,GPR75-ASB3 intergenic
2:53899622:C:A rs805422 0.431 0.063 No PSME4 intronic
2:53966056:T:C rs805343 0.524 0.047 No PSME4 intronic
2:53965962:A:G rs805342 0.523 0.046 No PSME4 intronic
2:53893683:G:A rs805412 0.415 0.045 No PSME4 synonymous
2:53812428:C:G rs2287347 0.092 0.039 No ERLEC1,GPR75-ASB3 intronic;intronic
2:53813267:A:G rs6545368 0.092 0.026 No ERLEC1,GPR75-ASB3 intronic;intronic
2:53965020:G:A rs805341 0.522 0.024 No PSME4 intronic
2:53921194:C:A rs805330 0.431 0.022 No PSME4 intronic
2:53807744:G:T rs6724214 0.092 0.021 No ERLEC1,GPR75-ASB3 intronic
2:53938709:G:T rs805361 0.438 0.02 No PSME4 intronic
2:53934885:C:T rs805358 0.439 0.015 No PSME4 intronic
2:53907915:C:T rs805318 0.44 0.01 No PSME4 intronic
2:54051530:T:C rs7590846 0.374 0.007 No ACYP2 intronic
2:54051448:C:G rs1559037 0.373 0.006 No ACYP2 intronic
2:54052186:A:G rs1833497 0.375 0.005 No ACYP2 intronic
2:54052992:A:C rs1862122 0.375 0.005 No ACYP2 intronic
2:53899904:C:T rs805423 0.482 0.005 No PSME4 synonymous
2:53995028:C:A rs7591431 0.361 0.004 No ACYP2 intronic
2:53958004:A:G rs805335 0.49 0.004 No PSME4 intronic
2:54053847:A:G rs7558126 0.374 0.004 No ACYP2 intronic
2:53733092:C:T rs114272138 0.022 0.003 No ASB3,GPR75-ASB3 intronic
2:53822332:G:A rs3095756 0.412 0.002 No GPR75-ASB3 intergenic
2:53720820:C:A rs77601694 0.022 0.002 No ASB3,GPR75-ASB3 intronic;intronic
stical significance (p<5×10-08) within 500kb either side of GPR75 in Europeans. The variants are annotated to the nearest gene, and whether they are in LD (R^2 > 0.8) wit
bility of causal association, PPA; linkage disequilibrium, LD; expression quantitative trait loci, eQTL.
R^2 with Gene for Sentinel
Nonsynonymous variants in LD (R^2 > Nonsynonymous variant
nonsynonymous nonsynonymous eQTL in LD
0.8) effect
variant change (R^2 > 0.8)
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
None None
2:53765485:G:C,2:53765485:G:C 0.83,0.83 missense,missense ASB3,GPR75-ASB3 None
None None
2:53765485:G:C,2:53765485:G:C 0.83,0.83 missense,missense ASB3,GPR75-ASB3 None
None None
None None
they are in LD (R^2 > 0.8) with an eQTL sentinel or nonsynonymous coding variant. At the GPR75 locus, no common variants were associated with BMI at genome-wide s
Table S10. Association of pLOF genetic variants in GPR75 with body mass index in sensitivity analyses.
The Table reports leave-one-out analyses excluding one genetic variant at a time as well as an analysis excluding variants associated with lower BMI in ind
Abbreviations: CI, confidence intervals; SD, standard deviation; BMI, body mass index; p, P-value; pLOF, predicted loss of function.
Number of
Exposure Excluded genetic variants genetic variants Beta (95% CI) per allele p
left in the in SD units of BMI
analysis
None (main analysis as reported in 46 -0.34 (-0.46, -0.22) 2.6E-08

Table 1)
2:53853134:T:G 45 -0.34 (-0.46, -0.22) 2.5E-08
2:53853135:T:G 45 -0.33 (-0.45, -0.22) 3.9E-08
2:53853136:A:C 45 -0.34 (-0.45, -0.22) 3.9E-08
2:53853200:GGT:G 45 -0.34 (-0.46, -0.22) 3.0E-08
2:53853245:GT:G 45 -0.34 (-0.46, -0.22) 2.7E-08
2:53853256:G:A 45 -0.33 (-0.45, -0.22) 3.9E-08
2:53853352:G:A 45 -0.36 (-0.49, -0.24) 4.9E-09
2:53853354:CCA:C 45 -0.36 (-0.48, -0.24) 8.1E-09
2:53853382:TG:T 45 -0.35 (-0.48, -0.23) 3.6E-08
2:53853502:T:A 45 -0.33 (-0.45, -0.21) 7.0E-08
2:53853535:G:A 45 -0.34 (-0.47, -0.22) 5.5E-08
2:53853547:T:A 45 -0.33 (-0.45, -0.21) 8.4E-08
2:53853560:G:GA 45 -0.33 (-0.45, -0.21) 6.2E-08
2:53853641:GTT:G 45 -0.34 (-0.46, -0.22) 2.8E-08
2:53853680:CAATTCAAACTGGT:C 45 -0.34 (-0.46, -0.22) 2.4E-08
2:53853692:G:T 45 -0.34 (-0.46, -0.22) 1.9E-08
2:53853730:G:A 45 -0.34 (-0.46, -0.22) 2.3E-08
2:53853771:G:C 45 -0.34 (-0.46, -0.22) 2.2E-08
2:53853853:G:A 45 -0.34 (-0.46, -0.22) 2.2E-08
2:53853877:G:A 45 -0.33 (-0.45, -0.21) 1.2E-07
2:53853926:G:T 45 -0.33 (-0.45, -0.21) 5.9E-08
2:53853927:T:TA 45 -0.34 (-0.46, -0.22) 3.0E-08
2:53853946:G:GT 45 -0.33 (-0.45, -0.21) 5.4E-08
GPR75 pLOF
genetic variants 2:53853967:TGG:T 45 -0.34 (-0.46, -0.22) 1.9E-08
with AAF < 1%
2:53854009:G:A 45 -0.34 (-0.46, -0.22) 2.1E-08
2:53854037:A:AG 45 -0.33 (-0.45, -0.21) 4.6E-08
2:53854045:ACTTT:A 45 -0.34 (-0.46, -0.21) 1.0E-07
2:53854051:T:A 45 -0.33 (-0.45, -0.21) 8.5E-08
2:53854057:G:A 45 -0.34 (-0.47, -0.2) 4.7E-07
2:53854078:G:A 45 -0.34 (-0.46, -0.22) 1.7E-08
2:53854099:CAG:C 45 -0.33 (-0.45, -0.21) 8.9E-08
2:53854135:CAT:C 45 -0.34 (-0.46, -0.22) 3.0E-08
2:53854137:TAGAG:T 45 -0.34 (-0.46, -0.22) 3.3E-08
2:53854306:G:A 45 -0.34 (-0.46, -0.22) 3.1E-08
2:53854380:G:C 45 -0.34 (-0.46, -0.22) 2.3E-08
2:53854409:A:AG 45 -0.34 (-0.46, -0.22) 2.7E-08
2:53854421:ACTACTGG:A 45 -0.31 (-0.43, -0.19) 7.2E-07
2:53854474:C:A 45 -0.34 (-0.46, -0.22) 1.8E-08
2:53854476:C:CA 45 -0.34 (-0.46, -0.23) 1.4E-08
2:53854485:AG:A 45 -0.34 (-0.46, -0.22) 2.3E-08
2:53854644:TG:T 45 -0.34 (-0.46, -0.21) 5.6E-08
2:53854685:TC:T 45 -0.34 (-0.45, -0.22) 3.5E-08
2:53854695:G:T 45 -0.34 (-0.46, -0.22) 2.3E-08
2:53854740:TG:T 45 -0.34 (-0.46, -0.22) 2.6E-08
2:53854755:A:G 45 -0.34 (-0.46, -0.22) 2.1E-08
2:53859827:C:T 45 -0.33 (-0.45, -0.21) 4.9E-08
5 variants associated with body
mass index (Ala110fs, Ser219fs, 41 -0.26 (-0.39, -0.12) 2.2E-04
Gln234*, Cys400fs, Lys404*)
ariants associated with lower BMI in individual-variant analyses (bottom row).
oss of function.
Table S11. Predicted loss of function variants in GPR75 associated with BMI in individual variant analyses.
This Table reports association statistics for GPR75 pLOF variants which were included in the gene burden analysis and were also individually associated wit
Abbreviations: AAF, alternative allele frequency; CI, confidence intervals; SD, standard deviation; BMI, body mass index; P-value, p; frame shift, fs; pLOF, p
Genetic exposure,
Gene Description AAF, fraction of 1
variant type
Single variant exome
2:53853547:T:A; GPR75 Lys404* 404* allele 1.0E-05
analysis (AAF<1%)
2:53853560:G:GA; GPR75 Cys400fs 400fs allele Single variant exome 1.2E-06

analysis (AAF<1%)
2:53854057:G:A; GPR75 Gln234* 234* allele Single variant exome 2.9E-05

analysis (AAF<1%)
2:53854099:CAG:C; GPR75 Ser219fs 219fs allele analysis (AAF<1%) 3.5E-06

2:53854421:ACTACTGG:A; GPR75 Ala110fs 110fs allele analysis (AAF<1%) 1.2E-05
sis and were also individually associated with BMI at an inverse-variance weighted meta-analysis p<0.05.
ass index; P-value, p; frame shift, fs; pLOF, predicted loss of function.
Beta (95% CI) per allele in
p
SD units of BMI
-1.77
9.5E-03
(-3.12, -0.43)
-2.25 1.3E-02
(-4.04, -0.47)
-0.35 1.8E-02
(-0.64, -0.06)
-1.16
(-2.19, -0.13) 2.8E-02
-0.99
(-1.55, -0.42) 6.2E-04
Table S12. Association with BMI of N- vs C-terminal truncating genetic variants in GPR75.
Abbreviations: CI, confidence intervals; SD, standard deviation; BMI, body mass index; p, p-value; AAF, alternative allele frequency; RR, reference-referenc
Beta (95% CI) per Genotype Beta (95% CI) per

Number of AAF,
Exposure allele in SD units of p counts, RR|RA| allele in kg/m2
variant sites fraction of 1
BMI AA genotypes units of BMI
N-terminal variants –
truncation before last 32 -0.38 (-0.53, -0.23) 4.1E-07 0.00012 645,477|149|0 -2.1 (-2.9, -1.3)
intracellular domain
C-terminal variants –
truncation within last 14 -0.26 (-0.46, -0.06) 0.012 6E-05 645,547|79|0 -1.4 (-2.5, -0.3)
intracellular domain
N-terminal variants –
truncation before last 100 37 -0.4 (-0.54, -0.26) 6.4E-09 0.00014 645,450|176|0 -2.2 (-2.9, -1.4)
amino acids
C-terminal variants –
truncation within last 100 9 -0.13 (-0.38, 0.12) 0.32 4E-05 645,574|52|0 -0.7 (-2.1, 0.7)
amino acids
ele frequency; RR, reference-reference genotype; RA, reference-alternative heterozygous genotype; AA, alternative-alternative homozygous genotype; kg/m2, kilograms
gous genotype; kg/m2, kilograms per square meter.
Table S13. Association of pLOF genetic variants in GPR75 with cardio-metabolic phenotypes in the UKB, GHS and MCPS studies.
Abbreviations: P-value, p; SD, standard deviations; CI, confidence intervals; pLOF, predicted loss of function; AAF, alternative allele frequency; RR, referenc
millimetre of mercury, mmHg; units per liter, U/L.
Allele counts
Beta in SDs or odds participants (or
Exposure Outcome, clinical unit ratio (95% CI) per p disease cases for
allele binary traits), RR|RA|
AA
-0.04
Glucosea, mg/dL 5.8E-01 461,056|162|0
(-0.19, 0.11)
-0.06
HbA1c, % 3.5E-01 574,999|191|0
(-0.19, 0.07)
-0.01
ASTa, U/L 9.0E-01 515,532|182|0
(-0.15, 0.13)
-0.11
ALTa, U/L 1.2E-01 518,135|182|0
(-0.25, 0.03)
-0.05
Triglyceridesa, mg/dL 4.4E-01 501,508|178|0
(-0.19, 0.08)
GPR75 pLOF genetic 0.19
HDL-Ca, mg/dL 6.3E-03 467,058|167|0
variants, AAF < 1% (0.05, 0.33)
-0.02
LDL-Ca, mg/dL 7.9E-01 500,249|177|0
(-0.15, 0.12)
Systolic blood -0.03
5.8E-01 622,080|222|0
pressure, mmHg (-0.15, 0.08)
Diastolic blood -0.03
pressure, mmHg 6.5E-01 618,264|222|0
(-0.15, 0.1)
Waist-to-hip ratio, -0.13
8.0E-02 525,809|177|0
ratio units (-0.27, 0.01)
0.92
Type 2 diabetes 7.3E-01 63,468|24|0
(0.59, 1.45)b
a Phenotype not available in the MCPS cohort.
b For comparison, a per-allele odds ratio of 0.89 is the projected odds ratio for type 2 diabetes due to a genetic reduction of approximately one third of a s
type 2 diabetes cases, the same number of controls and over 2,000 heterozygous carriers would be required to have 80% power to detect an association w
observed association in this study.
GHS and MCPS studies.
n; AAF, alternative allele frequency; RR, reference-reference genotype; RA, reference-alternative heterozygous genotype; AA, alternative-alternative homozygous genoty
Allele counts controls, Beta in clinical units

RR|RA|AA (95% CI) per allele
-0.9
-
(-4.1, 2.3)
-0.06
-
(-0.17, 0.06)
-0.1
-
(-1.4, 1.3)
-1.5
-
(-3.4, 0.4)
-4.8
-
(-16.7, 7.2)
2.9
-
(0.8, 4.9)
-0.6
-
(-5.2, 3.9)
-0.6
-
(-2.7, 1.5)
-0.3
-
(-1.6, 1)
-0.011
-
(-0.024, 0.001)
549,770|191|0 -
netic reduction of approximately one third of a standard deviation of BMI (such as the one imparted by pLOF genetic variants in GPR75). The projection is based on a prev
ed to have 80% power to detect an association with a per-allele odds ratio of 0.89 at alpha of 0.05. We performed a similar analysis for HbA1c, a continuous measure of g
; AA, alternative-alternative homozygous genotype; Hemoglobin A1C, HbA1c; Aspartate transaminase, AST; Alanine transaminase, ALT; High-density lipoprotein choleste
ants in GPR75). The projection is based on a previously reported (17) association with type 2 diabetes of a polygenic score comprising 97 BMI-associated common geneti
ar analysis for HbA1c, a continuous measure of glycemic levels, and obtained an expected (based on common variants associations) effect size of -0.07 standard deviation
aminase, ALT; High-density lipoprotein cholesterol, HDL-C; Low-density lipoprotein cholesterol, LDL-C; milligrams per deciliter, mg/dL;
e comprising 97 BMI-associated common genetic variants. Due to the rarity of GPR75 pLOF variants, we estimate that over 3 million
sociations) effect size of -0.07 standard deviation units per copy of GPR75 pLOF variant, which is in line with the point estimate of the
Table S14. Sentinel variants identified by GWAS fine-mapping in the 1Mb region around genes identified in our exome-wide gene-burden analysis.
The table lists common sentinel variants identified by GWAS fine-mapping and located within 500kb either side of genes identified by gene burden exome
colocalization with an eQTL signal for the gene in GTEx European ancestry [e-coloc(GTEx-EUR)] or GTEx all ancestries [e-coloc(GTEx-ALL)] datasets (based o
Abbreviations: genome-wide association study, GWAS; P-value, p; Genotype tissue expression project, GTEx; European individuals in GTEx, GTEx-EUR; All i
Gene identified in exome- Gene Coordinates Number of Common

wide analysis Chromosome:Start position-End Sentinel Variants
position (strand) within 500kb
MC4R 18:60371109-60372775 (-) 9
GPR75 2:53852912-53859989 (-) 1
ANKRD27 19:32597006-32675199 (-) 2
ROBO1 3:78597239-79767815 (-) 3
PCSK1 5:96390414-96433280 (-) 5
UBR2 6:42564061-42693504 (+) 1
CALCR 7:93424486-93574730 (-) 4
DPP9 19:4675223-4723863 (-) 1
GIPR 19:45668243-45683724 (+) 3
PDE3B 11:14643722-14872044 (+) 1

GPR151 5:146513102-146516190 (-) 0
SPARC 5:151661095-151687165 (-) 0
UHMK1 1:162497250-162529629 (+) 0
KIAA0586 14:58427384-58551289 (+) 0
KIAA1109 4:122152332-122362758 (+) 0
ANO4 12:100794806-101128641 (+) 0
egion around genes identified in our exome-wide gene-burden analysis.
nd located within 500kb either side of genes identified by gene burden exome-wide analysis. Sentinel variants are annotated to genes based on physical proximity to the
-coloc(GTEx-EUR)] or GTEx all ancestries [e-coloc(GTEx-ALL)] datasets (based on a posterior probability of a shared single causal variant > 0.8 in colocalization analyses; se
tissue expression project, GTEx; European individuals in GTEx, GTEx-EUR; All individuals in GTEx, GTEx-ALL; predicted loss of function, pLOF; alternative allele frequency,
Sentinel C:P:R:A [Credible Set Size, number of variants] Genes Prioritized by common variants fine-mapping at
(Predicted Effect) the locus (* exome-identified gene)
18:60020655:T:G [21]; 18:60161902:T:C [6]; 18:60183864:T:C

[2]; 18:60212394:T:C [25]; 18:60245552:G:A [1]; PMAIP1[p], MC4R*[p,n]
18:60300448:T:A [11]; 18:60371544:A:T [1] (missense-MC4R);
18:60415346:G:A [33]; 18:60686242:C:G [1336]
2:53634252:A:G [127] ASB3 [p], GPR75-ASB3 [p]

19:32333404:C:A [145]; 19:32620852:C:T [300] (intronic- ZNF507 [p,e-coloc(GTEx-EUR, GTEx-ALL)], ANKRD27*
ANKRD27) [p,n], DPY19L3 [e-coloc(GTEx-EUR)]
3:78538253:T:C [61]; 3:78610906:C:T [2] (intronic-ROBO1);
3:79780222:T:C [23] ROBO1* [p]
5:96383590:C:T [25]; 5:96523440:C:T [7]; 5:96532204:C:A [8]; PCSK1* [p,n,e-coloc(GTEx-EUR, GTEx-ALL)], CAST [p],
5:96567684:C:A [32]; 5:96745179:A:G [52] (intronic-CAST) GPR150 [e-coloc(GTEx-ALL)]
6:42698282:G:A [52] (downstream-UBR2, 3' UTR-PRPH2) PRPH2 [p]
7:93395855:A:T [16]; 7:93467323:T:C [55] (intronic-CALCR);

7:93576378:T:C [180] (upstream-CALCR); 7:93583183:A:G [61] CALCR* [p,n]
UBXN6 [p,e-coloc(GTEx-EUR, GTEx-ALL)], MPND [e-

19:4444446:C:T [91] (downstream-CHAF1A)
coloc(GTEx-ALL)]
19:45611571:C:T [40] (intronic-ELM2); 19:45679046:T:A [746]
EML2 [p], GIPR* [p,n], FBXO46 [e-coloc(GTEx-EUR)]
(intronic-GIPR); 19:45679046:T:A [5] (intronic-GIPR)
11:14619638:G:T [94] (intronic-PSMA1) PSMA1 [p]
- -
- -
- -
- -
- -
- -
ted to genes based on physical proximity to the nearest gene [p], nonsynonymous coding effect or in LD (R2>0.8) with a nonsynonymous variant in the gene [n], having st
causal variant > 0.8 in colocalization analyses; see Table S21 for detailed colocalization results).
s of function, pLOF; alternative allele frequency, AAF; chromosome, position, reference, alternative, CPRA; kilobase, kb.
Other genes in addition to exome-top gene prioritized by

Is exome top-gene prioritized also by GWAS fine-mapping GWAS fine-mapping
Yes Yes
No Exome-top gene not prioritized by GWAS fine-mapping
Yes Yes
Yes No
Yes Yes
Yes No
Yes Yes

N/A
N/A
N/A
No. No common variant signals fine-mapped at locus
N/A
N/A
N/A
ynonymous variant in the gene [n], having strong evidence of
Association strength for top gene-burden signal for the Association strength for top gene-burden signal for any of the other
exome-top gene, -log10(p) genes prioritized by common variants besides the exome-identified
gene, -log10(p)
47.40 PMAIP1 (pLOF plus any missense; AAF < 0.1%): 0.78
GPR75-ASB3 (pLOF plus deleterious missense (1/5); AAF < 0.1%):

7.59
0.90
8.23 ZNF507 (pLOF plus deleterious missense (5/5); AAF < 0.1%): 0.96
7.26 N/A
8.00 GPR150 (pLOF plus deleterious missense (1/5); AAF < 1%): 1.72
8.62 PRPH2 (pLOF; AAF < 1%): 0.76
12.85 N/A
7.70 UBXN6 (pLOF plus deleterious missense (1/5); AAF < 1%): 0.92
18.03 FBXO49 (pLOF plus any missense; AAF < 0.1%): 1.19
6.76 PSMA1 (pLOF plus any missense; AAF < 0.1%): 0.98
8.24 N/A
9.91 N/A
7.31 N/A
6.51 N/A
7.29 N/A
8.97 N/A
Difference in association
signal strength. -log10(p)
46.6
6.69
7.3
N/A
6.3
7.86
N/A
6.78
16.8
5.78
N/A
N/A
N/A
N/A
N/A
N/A
Table S15. Associations with BMI at CALCR, GIPR and MC4R.
Abbreviations: AAF, alternative allele frequency; CI, confidence intervals; SD, standard deviation; BMI, body mass index; p, P-value; pLOF, predicted loss of
Genetic exposure,
Gene variant type; frequency Description AAF, fraction of 1 Beta (95% CI) per allele in
SD units of BMI
cutoff in %
CALCR pLOF; AAF < 1% Gene-burden exome 0.001 0.1

analysis (0.05, 0.15)
pLOF or predicted Adjusting for GIPR -0.07

GIPR deleterious missense 0.007
Arg190Gln and Glu288Gly (-0.09, -0.05)
variants (1/5); AAF < 1%
19:45674762:G:A; GIPR Single variant exome -0.11

190Gln allele 0.001
Arg190Gln analysis (AAF<1%) (-0.15, -0.06)
19:45677718:A:G; GIPR Single variant exome -0.11
Glu288Gly 288Gly allele analysis (AAF<1%) 0.002 (-0.15, -0.07)
18:60372043:C:T; MC4R Single variant exome -0.11
Val103Ile 103Ile allele analysis (AAF>1%) 0.017 (-0.12, -0.09)
18:60371599:T:G; MC4R Single variant exome -0.03
251Leu allele 0.012
Ile251Leu analysis (AAF>1%) (-0.04, -0.01)
Excluding UKB, which was

18:60372043:C:T; MC4R 103Ile allele the discovery set for a 0.011 -0.09
Val103Ile recent analysis of these (-0.12, -0.06)
variants (17)
Excluding UKB, which was

18:60371599:T:G; MC4R the discovery set for a -0.05
251Leu allele 0.007
Ile251Leu recent analysis of these (-0.09, -0.02)
variants (17)
; p, P-value; pLOF, predicted loss of function.
1.2E-04
3.7E-08
2.8E-06
2.2E-08
5.1E-59
2.2E-04
7.8E-10
1.9E-03
Table S16. Association with BMI for the burden of rare pLOF variants in mongenic obesity genes in the leptin-melanocortin pathway.
Abbreviations: predicted loss of function, pLOF; body mass index, BMI; confidence interval, CI; standard deviation, SD; kilograms per square meter, kg/m2;
Monogenic obesity associated Beta (95% CI) per
with pLOF in the gene, Monogenic Inheritence Genetic exposure, variant
Gene allele in SD units
Mendelian inheritance in man Pattern type; frequency cutoff in %
of BMI
identifier
0.43
LEP Leptin deficiency, MIM: 614962 Autosomal Recessive pLOF; AAF < 1% (0.06, 0.8)
Leptin receptor deficiency, MIM: 0.02
LEPR Autosomal Recessive pLOF; AAF < 1%
614963 (-0.07, 0.11)
Proopiomelanocortin deficiency, 0.14
POMC MIM: 609734 Autosomal Recessive pLOF; AAF < 1% (0.05, 0.22)
Obesity with impaired 0.33

PCSK1 prohormone processing, MIM: Autosomal Recessive pLOF; AAF < 1% (0.21, 0.44)
600955
MC4R Melanocortin 4 receptor Autosomal Dominant pLOF; AAF < 1% 0.50

deficiency, MIM: 618406 (0.40, 0.60)
ocortin pathway.
kilograms per square meter, kg/m2; P-value, p; alternative allele frequency, AAF; reference-reference genotype, RR; reference-alternative genotype, RA; alternative-alte

kg/m2 units of BMI
2.32
(0.31, 4.33) 0.02 0.00002 590,303|23|0
0.12
0.62 0.00032 645,210|416|0
(-0.35, 0.6)
0.73
(0.27, 1.19) 0.002 0.00035 645,180|446|0
1.76
(1.16, 2.36) 1.0E-08 0.00020 645,368|258|0
2.68 1.4E-22 0.00025 645,302|324|0

(2.15, 3.22)
RR; reference-alternative genotype, RA; alternative-alternative genotype, AA.

kgs of body weight
6.7
(0.88, 12.51)
0.35
(-1.02, 1.72)
2.11
(0.78, 3.44)
5.09
(3.35, 6.83)
7.75
(6.2, 9.31)
Table S17. Associations with BMI in the exome-wide analysis for rare nonsynonymous single variants.
Rare nonsynonymus variants individually associated with BMI in the exome-wide analysis with P<5x10-08.
Abbreviations: chromosome, position, reference, alternative CPRA; standard deviation, SD; body mass index, BMI; confidence interval, CI; P-value, p; altern
Variant name, CPRA rsid Chomosome Position Reference allele Alternative allele
5:146515831:G:A rs114285050 5 146515831 G A

5:151666362:C:T rs41290587 5 151666362 C T
14:50188639:G:C rs72681869 14 50188639 G C
16:2766626:G:C rs117133016 16 2766626 G C
18:60372169:C:T rs370479598 18 60372169 C T
19:32658955:G:A rs147502994 19 32658955 G A
19:45677718:A:G rs143430880 19 45677718 A G
; confidence interval, CI; P-value, p; alternative allele frequency, AAF.
AAF,
Per allele beta in SD units of BMI 95% CI, lower bound 95% CI, upper bound p fraction
of 1
-0.05 -0.07 -0.04 1.9E-08 0.0069
0.08 0.06 0.10 1.1E-14 0.0062
-0.05 -0.07 -0.03 1.1E-08 0.0085
0.06 0.04 0.07 3.3E-11 0.0086
0.78 0.57 0.99 1.7E-13 0.0001
0.06 0.04 0.08 2.0E-09 0.0072
-0.11 -0.15 -0.07 2.2E-08 0.0016
Variant effect Gene Protein effect
stop_gain GPR151 p.Arg95*

missense SPARC p.Gly245Arg
missense SOS2 p.Pro191Arg
missense SRRM2 p.Arg2033Pro
missense MC4R p.Glu61Lys
missense ANKRD27 p.Arg21Cys
missense GIPR p.Glu288Gly
Table S18.lists
The table Sentinel
commonvariants identified
sentinel variantsbyidentified
GWAS fine-mapping in the discovery
by GWAS fine-mapping cohorts
as variants of highest
with our exome sequencing
posterior analysis.
probability of causal associations for condition
ancestry GWAS results (meta-analysis of UKB and GHS) and in Admixed American ancestry GWAS results (MCPS). In addition, to estimate the strength of a
performed using
Abbreviations: MANTRAEUR;
european, and, admixed-american,
for variants presentAMR;
in all three cohorts, position,
chromosome, the log10reference,
transformed Bayes factor
alternative, foralternative
CPRA; associationallele
is reported in column
frequency, N.
AAF; posterior p
Fine mapped locus number Ancestry Chromosome Credible set start position
1 EUR 1 107050337
2 EUR 1 107340421
3 EUR 1 107415735
4 EUR 1 10762751
5 EUR 1 105582139
6 EUR 1 105582139
7 EUR 1 109548649
8 EUR 1 109539929
9 EUR 1 110465938
10 EUR 1 110640251
11 EUR 1 11114010
12 EUR 1 111729379
13 EUR 1 110223832
14 EUR 1 114701716
15 EUR 1 118307139
16 EUR 1 11863281
17 EUR 1 118947259
18 EUR 1 118961738
19 EUR 1 149877621
20 EUR 1 151046385
21 EUR 1 154310441
22 AMR 1 153255476
23 AMR 1 154751527
24 EUR 1 154861616
25 EUR 1 155013615
26 EUR 1 155007497
27 AMR 1 155295386
28 EUR 1 155166366
29 EUR 1 156004180
30 EUR 1 156436589
31 EUR 1 15489084
32 EUR 1 14446278
33 EUR 1 1609070
34 EUR 1 16975177
35 EUR 1 171460270
36 EUR 1 173925012
37 EUR 1 170290703
38 EUR 1 174625169
39 EUR 1 176404591
40 EUR 1 177310985
41 EUR 1 177892222
42 EUR 1 177893257
43 EUR 1 177895001
44 AMR 1 177872550
45 AMR 1 176425173
46 EUR 1 183211407
47 EUR 1 14395108
48 EUR 1 184680884
49 EUR 1 190230980
50 EUR 1 191229350
51 EUR 1 1760882
52 EUR 1 193022653
53 EUR 1 188969921
54 EUR 1 194979938
55 EUR 1 19580219
56 EUR 1 197211239
57 AMR 1 198387999
58 EUR 1 190497848
59 AMR 1 199886944
60 EUR 1 201831383
61 EUR 1 201957275
62 EUR 1 202137360
63 EUR 1 200512008
64 AMR 1 202039878
65 EUR 1 203516014
66 AMR 1 203526466
67 EUR 1 200538382
68 AMR 1 202039878
69 EUR 1 209028954
70 EUR 1 209317182
71 EUR 1 209904236
72 EUR 1 21487263
73 EUR 1 21487263
74 EUR 1 219448730
75 AMR 1 218129268
76 AMR 1 218115293
77 EUR 1 219589239
78 EUR 1 22967628
79 EUR 1 242270835
80 EUR 1 242808802
81 EUR 1 243368347
82 EUR 1 243515087
83 EUR 1 2496273
84 EUR 1 30450939
85 EUR 1 30913637
86 EUR 1 31726197
87 EUR 1 32765779
88 EUR 1 33318545
89 EUR 1 32618775
90 EUR 1 34118792
91 EUR 1 32618775
92 EUR 1 37617799
93 EUR 1 38301320
94 EUR 1 39085816
95 EUR 1 39509943
96 EUR 1 37625270
97 EUR 1 40237572
98 EUR 1 41942399
99 EUR 1 2215723
100 EUR 1 45472714
101 EUR 1 45174096
102 EUR 1 47204853
103 EUR 1 48967331
104 EUR 1 50359773
105 EUR 1 54248453
106 EUR 1 52806943
107 EUR 1 56487078
108 EUR 1 57353173
109 EUR 1 60617253
110 EUR 1 60617253
111 EUR 1 62017951
112 EUR 1 62114219
113 EUR 1 64145510
114 EUR 1 65505242
115 EUR 1 65934212
116 EUR 1 6610639
117 EUR 1 67820756
118 EUR 1 64015229
119 EUR 1 72284670
120 EUR 1 72285451
121 EUR 1 72288142
122 EUR 1 74526594
123 EUR 1 74552737
124 EUR 1 7663897
125 EUR 1 77439160
126 EUR 1 77984833
127 EUR 1 77439160
128 EUR 1 80322794
129 EUR 1 81890425
130 EUR 1 79173424
131 EUR 1 77439160
132 EUR 1 85302961
133 EUR 1 90724376
134 EUR 1 90725297
135 EUR 1 92476795
136 EUR 1 89367389
137 EUR 1 95816893
138 EUR 1 95810642
139 EUR 1 96421048
140 EUR 1 96648543
141 EUR 1 97078196
142 EUR 1 97954897
143 EUR 1 98112647
144 EUR 1 9656183
145 EUR 1 98710740
146 EUR 2 100052995
147 EUR 2 100258165
148 EUR 2 101682260
149 EUR 2 103459962
150 EUR 2 104798021
151 EUR 2 99899970
152 EUR 2 105299254
153 EUR 2 99899970
154 EUR 2 113194347
155 EUR 2 113196080
156 EUR 2 113277156
157 EUR 2 126189143
158 EUR 2 127677262
159 EUR 2 135080336
160 EUR 2 136665036
161 EUR 2 137646430
162 EUR 2 139074798
163 EUR 2 140178757
164 EUR 2 141528198
165 EUR 2 140812810
166 EUR 2 140812810
167 EUR 2 143185294
168 EUR 2 140812810
169 EUR 2 144845739
170 EUR 2 147084234
171 EUR 2 14805039
172 EUR 2 15030372
173 EUR 2 153944120
174 EUR 2 154798245
175 EUR 2 155735890
176 EUR 2 156175164
177 EUR 2 153196767
178 EUR 2 15698527
179 EUR 2 157143797
180 EUR 2 158745674
181 EUR 2 160230900
182 EUR 2 161842502
183 EUR 2 159552252
184 EUR 2 14151825
185 EUR 2 160744036
186 EUR 2 164646401
187 EUR 2 159850564
188 EUR 2 166065703
189 AMR 2 168137419
190 AMR 2 16815427
191 AMR 2 166728378
192 EUR 2 170721349
193 EUR 2 171674439
194 EUR 2 170267035
195 EUR 2 170262585
196 EUR 2 174301908
197 AMR 2 174373299
198 AMR 2 178319677
199 EUR 2 179454938
200 EUR 2 180456375
201 EUR 2 180734343
202 EUR 2 179944590
203 EUR 2 185925431
204 EUR 2 187223583
205 EUR 2 187560414
206 EUR 2 191760334
207 EUR 2 192018124
208 EUR 2 192922455
209 EUR 2 197628113
210 EUR 2 199852918
211 EUR 2 198370940
212 EUR 2 202785544
213 EUR 2 196966917
214 EUR 2 204511186
215 EUR 2 198370940
216 EUR 2 198370940
217 EUR 2 207072187
218 EUR 2 207293728
219 EUR 2 210675783
220 EUR 2 211104614
221 EUR 2 211397490
222 EUR 2 211742198
223 EUR 2 212539139
224 EUR 2 214400050
225 EUR 2 216467334
226 EUR 2 218408995
227 EUR 2 219273864
228 EUR 2 2187986
229 EUR 2 210365780
230 EUR 2 221437192
231 EUR 2 226782644
232 EUR 2 228107168
233 EUR 2 229728272
234 EUR 2 229750295
235 EUR 2 226796327
236 EUR 2 234465552
237 EUR 2 235827710
238 EUR 2 235938674
239 EUR 2 238874016
240 AMR 2 12467
241 EUR 2 240369623
242 EUR 2 241669569
243 EUR 2 24913997
244 AMR 2 25100214
245 EUR 2 24787000
246 EUR 2 26719388
247 EUR 2 27375230
248 EUR 2 224919
249 EUR 2 28079102
250 EUR 2 28708705
251 EUR 2 23501711
252 AMR 2 33413779
253 EUR 2 35205216
254 EUR 2 34643797
255 EUR 2 33807589
256 EUR 2 35705412
257 EUR 2 34643797
258 EUR 2 33803565
259 EUR 2 40055062
260 EUR 2 39864207
261 EUR 2 41281159
262 EUR 2 417167
263 EUR 2 161856
264 AMR 2 417167
265 EUR 2 39957960
266 EUR 2 44492754
267 EUR 2 46650824
268 EUR 2 46783603
269 AMR 2 4667903
270 EUR 2 48727766
271 EUR 2 49973972
272 EUR 2 50479975
273 EUR 2 50595325
274 EUR 2 50727184
275 EUR 2 50944824
276 EUR 2 51598115
277 EUR 2 52511051
278 EUR 2 52808625
279 EUR 2 53627485
280 EUR 2 4774810
281 EUR 2 55011541
282 EUR 2 524298
283 EUR 2 56375983
284 EUR 2 4774810
285 EUR 2 58534464
286 EUR 2 58665399
287 EUR 2 58927970
288 EUR 2 59067423
289 EUR 2 59895175
290 EUR 2 60057562
291 EUR 2 6004638
292 EUR 2 53717229
293 EUR 2 53663131
294 AMR 2 610603
295 AMR 2 6039940
296 EUR 2 62611801
297 EUR 2 628504
298 EUR 2 67609375
299 EUR 2 69498908
300 EUR 2 66120248
301 AMR 2 69524412
302 EUR 2 79249249
303 EUR 2 4806377
304 EUR 2 79288828
305 EUR 2 79288828
306 EUR 2 79288828
307 EUR 2 79288828
308 EUR 2 81413158
309 EUR 2 86530537
310 EUR 2 96882654
311 EUR 2 97716827
312 EUR 2 99312565
313 EUR 3 101274666
314 EUR 3 100168743
315 EUR 3 102389001
316 EUR 3 8830723
317 EUR 3 104887286
318 EUR 3 103501344
319 EUR 3 107520936
320 EUR 3 108103398
321 EUR 3 108399867
322 EUR 3 8001481
323 EUR 3 11143000
324 EUR 3 113228138
325 EUR 3 114575844
326 AMR 3 113509172
327 AMR 3 113208768
328 EUR 3 115670949
329 EUR 3 113637973
330 EUR 3 11245469
331 AMR 3 10806186
332 EUR 3 117216476
333 EUR 3 117791137
334 EUR 3 118318083
335 EUR 3 118500322
336 EUR 3 119814499
337 AMR 3 119325647
338 EUR 3 12274840
339 AMR 3 12288284
340 EUR 3 123330860
341 EUR 3 12334457
342 EUR 3 123492217
343 EUR 3 1233546
344 EUR 3 124967889
345 EUR 3 125455792
346 EUR 3 127193589
347 EUR 3 127041857
348 EUR 3 12884597
349 EUR 3 131530285
350 EUR 3 131832183
351 EUR 3 131833858
352 EUR 3 131841949
353 EUR 3 132010271
354 EUR 3 131987246
355 EUR 3 13308585
356 EUR 3 134943409
357 EUR 3 135949994
358 EUR 3 136222574
359 EUR 3 138359506
360 EUR 3 139980969
361 AMR 3 140021254
362 EUR 3 139991908
363 EUR 3 141464950
364 AMR 3 141464950
365 EUR 3 139990466
366 EUR 3 147151822
367 EUR 3 147382319
368 EUR 3 146651379
369 EUR 3 147998711
370 AMR 3 153846261
371 EUR 3 154167714
372 EUR 3 155364151
373 EUR 3 156568015
374 EUR 3 15673649
375 EUR 3 155343972
376 AMR 3 157139178
377 EUR 3 158127380
378 AMR 3 155874795
379 AMR 3 156727412
380 EUR 3 161707656
381 EUR 3 160208276
382 EUR 3 167631050
383 EUR 3 16707024
384 EUR 3 170958345
385 EUR 3 171399796
386 EUR 3 173395251
387 EUR 3 167013333
388 EUR 3 167013333
389 EUR 3 173916302
390 EUR 3 175867845
391 EUR 3 175867845
392 EUR 3 178391624
393 EUR 3 175867845
394 EUR 3 175867845
395 EUR 3 181611894
396 EUR 3 15655776
397 EUR 3 182537812
398 EUR 3 183725686
399 EUR 3 184258315
400 EUR 3 186108951
401 EUR 3 17082187
402 EUR 3 195107806
403 EUR 3 196351278
404 EUR 3 197061492
405 EUR 3 20366437
406 EUR 3 17082187
407 EUR 3 2324306
408 EUR 3 24851065
409 EUR 3 23571253
410 EUR 3 25054420
411 EUR 3 825354
412 EUR 3 34159450
413 EUR 3 34587244
414 EUR 3 34939792
415 EUR 3 35662929
416 EUR 3 41174305
417 EUR 3 42263639
418 EUR 3 42376490
419 EUR 3 41862000
420 EUR 3 41825982
421 EUR 3 43987272
422 EUR 3 44338996
423 EUR 3 45178643
424 EUR 3 47585292
425 EUR 3 49860397
426 EUR 3 50734388
427 EUR 3 48491421
428 AMR 3 52588070
429 EUR 3 52815533
430 EUR 3 53327601
431 EUR 3 53710955
432 AMR 3 52446764
433 AMR 3 52487364
434 EUR 3 59776905
435 AMR 3 60059124
436 EUR 3 61211693
437 EUR 3 61242723
438 EUR 3 59790768
439 EUR 3 61708268
440 EUR 3 62097589
441 EUR 3 62474144
442 EUR 3 62702071
443 EUR 3 60898595
444 AMR 3 59709431
445 EUR 3 64988197
446 EUR 3 65169885
447 EUR 3 64880818
448 EUR 3 66376605
449 EUR 3 69207542
450 EUR 3 69858724
451 EUR 3 70423388
452 EUR 3 70817694
453 EUR 3 69120315
454 EUR 3 70985597
455 EUR 3 71632336
456 EUR 3 77516035
457 EUR 3 78394089
458 EUR 3 78610906
459 EUR 3 79770123
460 EUR 3 80401432
461 EUR 3 8095760
462 EUR 3 81697331
463 EUR 3 82483417
464 EUR 3 84942553
465 EUR 3 85796081
466 EUR 3 86201274
467 EUR 3 88049486
468 EUR 3 88678183
469 EUR 3 89990315
470 EUR 3 94312995
471 EUR 3 9456459
472 EUR 3 95375872
473 EUR 4 101787840
474 EUR 4 98733172
475 EUR 4 102267552
476 EUR 4 99143498
477 EUR 4 110243446
478 EUR 4 111676165
479 EUR 4 112334137
480 EUR 4 114188209
481 EUR 4 118153819
482 AMR 4 118172149
483 EUR 4 119235462
484 AMR 4 119645578
485 EUR 4 118854552
486 EUR 4 128305551
487 EUR 4 129803585
488 EUR 4 130061030
489 EUR 4 134712620
490 EUR 4 136162038
491 EUR 4 138814023
492 EUR 4 139839074
493 EUR 4 139941517
494 EUR 4 142707997
495 EUR 4 143367265
496 EUR 4 144340847
497 EUR 4 144801710
498 EUR 4 146118607
499 EUR 4 146413604
500 EUR 4 151884457
501 EUR 4 152014265
502 EUR 4 152098017
503 EUR 4 161096768
504 EUR 4 159671793
505 EUR 4 162097331
506 EUR 4 163438526
507 EUR 4 164227390
508 EUR 4 164315846
509 EUR 4 15112297
510 EUR 4 15092207
511 EUR 4 170601408
512 EUR 4 169913447
513 EUR 4 172563018
514 EUR 4 18003500
515 EUR 4 18328201
516 AMR 4 184967973
517 EUR 4 1800139
518 EUR 4 20097515
519 EUR 4 20258405
520 EUR 4 25407216
521 EUR 4 2362216
522 EUR 4 26844090
523 EUR 4 28511908
524 EUR 4 24378866
525 EUR 4 24392983
526 EUR 4 31002014
527 EUR 4 24104234
528 EUR 4 32222067
529 EUR 4 3279642
530 EUR 4 34827631
531 EUR 4 35482449
532 EUR 4 38331166
533 EUR 4 38611486
534 EUR 4 40958494
535 EUR 4 41074271
536 EUR 4 42223917
537 EUR 4 44428008
538 AMR 4 45163633
539 EUR 4 45173674
540 EUR 4 1800484
541 EUR 4 51795464
542 EUR 4 52549359
543 EUR 4 53703265
544 EUR 4 54346401
545 EUR 4 54629626
546 EUR 4 54821151
547 EUR 4 57847889
548 EUR 4 59327091
549 EUR 4 60725176
550 EUR 4 64785514
551 EUR 4 66188051
552 EUR 4 66459258
553 EUR 4 66935782
554 EUR 4 66789663
555 EUR 4 76107297
556 EUR 4 74701517
557 EUR 4 79787316
558 EUR 4 79163613
559 AMR 4 86911018
560 AMR 4 88093377
561 EUR 4 88124179
562 EUR 4 86695020
563 EUR 4 88800453
564 EUR 4 93486690
565 EUR 4 94033891
566 EUR 4 94757292
567 EUR 4 95196220
568 EUR 4 95049353
569 EUR 4 98520061
570 EUR 4 99318162
571 EUR 4 99143498
572 EUR 5 104550512
573 EUR 5 106537406
574 EUR 5 107042090
575 EUR 5 103305891
576 EUR 5 107962915
577 EUR 5 108016623
578 EUR 5 109309045
579 EUR 5 111889304
580 EUR 5 112648837
581 EUR 5 113539290
582 EUR 5 114501501
583 EUR 5 116347961
584 AMR 5 119350388
585 EUR 5 119356917
586 EUR 5 119981677
587 EUR 5 121142620
588 EUR 5 122706713
589 EUR 5 123317126
590 EUR 5 123316412
591 EUR 5 124996410
592 EUR 5 130867158
593 EUR 5 130125633
594 EUR 5 134525973
595 EUR 5 137186566
596 EUR 5 138288619
597 EUR 5 139677491
598 EUR 5 140137612
599 EUR 5 142280899
600 EUR 5 142431312
601 EUR 5 133454786
602 EUR 5 145086666
603 EUR 5 148457046
604 EUR 5 146980262
605 EUR 5 152525900
606 EUR 5 153131377
607 EUR 5 153716358
608 EUR 5 153980670
609 EUR 5 154166027
610 EUR 5 157909170
611 EUR 5 158457532
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our exome
highest sequencing
posterior analysis.
probability of causal associations for conditionally-independent common variant signals in the discovery cohorts. Fine mapping was performed separate
GWAS results (MCPS). In addition, to estimate the strength of association across datasets for fine-mapped variants, a multi-ancestry meta-analysis including UKB, GHS, an
med Bayes factor
alternative, foralternative
CPRA; associationallele
is reported in column
frequency, N.
AAF; posterior probability of association, PPA.
Credible set end position Number of variants in the 95% credible set Sentinel Variant (CPRA)
107082434 19 1:107081941:G:A
107343729 4 1:107342396:C:G
107447725 14 1:107428582:C:A
10790787 15 1:10765520:C:T
115992231 419 1:108118976:C:T
115988288 354 1:109254243:G:A
109595487 19 1:109577110:C:T
109612066 6 1:109612066:T:C
110473639 5 1:110465938:G:A
110962566 34 1:110817180:G:A
11192659 15 1:11147212:C:T
111781489 10 1:111730863:T:C
112315672 22 1:112300762:A:T
114851600 49 1:114709988:G:C
118336934 15 1:118307878:G:T
12015506 18 1:11863680:A:G
118959115 17 1:118956423:C:A
119220106 83 1:118992711:T:A
152510421 473 1:150900760:G:C
151077807 3 1:151046385:A:G
154336057 12 1:154323600:T:C
156248851 1012 1:154496752:GA:G
154754091 2 1:154751527:G:A
156537878 197 1:154861707:G:A
155022502 3 1:155013615:T:C
156058655 5 1:155065193:C:A
156053011 222 1:155496993:C:G
156537878 157 1:155852838:C:A
156080086 18 1:156080086:C:T
156520182 30 1:156436589:G:C
15724765 42 1:15667108:G:A
20953392 126 1:16532830:A:G
1669613 8 1:1669613:G:A
17016429 14 1:16992792:C:T
171547724 8 1:171486183:C:T
174693963 176 1:173944707:A:G
175411160 189 1:175025654:C:A
175032043 135 1:175032043:G:A
179397815 403 1:176408138:A:G
177431368 50 1:177421129:G:T
177892222 1 1:177892222:G:C
177893257 1 1:177893257:G:A
177895001 1 1:177895001:T:A
177929986 17 1:177925152:T:C
179423376 1573 1:178613085:A:T
185477005 351 1:183552148:C:T
21067640 604 1:18414039:G:A
184739140 28 1:184694447:T:C
190339704 32 1:190325596:T:C
191463038 54 1:191356013:G:A
1944182 45 1:1918090:A:G
193460723 37 1:193067822:G:A
198122648 497 1:193872711:C:A
195083807 38 1:195067871:G:A
19639545 16 1:19599265:C:T
197293054 12 1:197292468:T:C
198482006 43 1:198406470:G:T
198769242 40 1:198736473:C:T
199929250 3 1:199886944:C:T
201880929 19 1:201831383:T:G
202026525 14 1:201957275:T:G
202145341 7 1:202143771:C:A
204863726 431 1:202647661:C:T
205025521 752 1:203520555:C:T
203522022 6 1:203522022:G:A
203527807 3 1:203526466:G:A
204852559 256 1:203546947:T:A
205025521 533 1:204993277:A:G
209093005 35 1:209061013:G:T
209385137 33 1:209382825:C:A
210179296 10 1:210167624:G:A
24486665 265 1:21619903:T:C
24486665 543 1:21854867:G:C
219615188 55 1:219463199:G:T
221022762 417 1:219615188:A:G
221113485 1983 1:219642342:G:T
221056478 25 1:220879115:C:G
23096881 71 1:22986860:T:G
242436926 107 1:242289802:C:T
242828684 29 1:242827030:A:G
243445665 16 1:243410087:C:G
243848640 55 1:243580172:C:A
2512975 2 1:2512975:G:A
32618775 26 1:30470785:C:G
34693357 115 1:30972823:C:T
31728046 2 1:31726197:G:C
32858487 41 1:32768527:G:A
33425548 46 1:33376452:T:C
33884214 110 1:33802344:T:C
34137269 2 1:34118792:G:A
34473738 14 1:34469434:C:T
41384201 19 1:38128099:C:T
38358590 17 1:38328754:C:G
39474827 74 1:39326204:G:C
39509943 1 1:39509943:G:A
42146337 82 1:39588827:A:G
41384201 11 1:40237572:G:A
42000057 26 1:41957629:T:C
7254595 108 1:4506455:A:G
52544144 106 1:45573343:A:G
50722444 451 1:45757414:G:A
47241355 18 1:47228142:G:T
50055932 136 1:49532002:C:T
51060786 69 1:51060786:C:T
54269065 17 1:54269065:G:A
57997540 822 1:54382432:G:C
56550459 18 1:56497955:A:G
57440804 37 1:57363762:G:A
63010782 201 1:61084685:A:G
63361355 265 1:61420730:A:G
62017951 1 1:62017951:A:G
62114219 1 1:62114219:G:T
69074176 93 1:64312716:G:T
65524195 6 1:65513597:T:C
66004696 14 1:65969060:G:A
6658948 15 1:6628298:G:A
67916665 44 1:67893799:G:A
69168001 475 1:68484696:C:T
72300402 3 1:72284670:C:A
72289422 2 1:72285451:C:T
72289105 4 1:72288440:A:G
74541036 18 1:74535790:A:T
75614613 37 1:74630755:G:A
7677739 5 1:7667794:T:C
78150910 63 1:77523274:G:C
77984833 1 1:77984833:C:A
86433338 254 1:79557564:T:C
80373593 109 1:80332954:C:T
81975263 20 1:81924169:T:C
86357820 162 1:83888156:T:C
86367970 177 1:84399051:G:C
86357820 8 1:85422092:A:T
90730619 3 1:90724376:G:A
90726025 4 1:90725298:T:A
92569463 67 1:92566910:G:A
94011669 203 1:93726916:G:A
96038790 2 1:95816893:G:A
95827549 13 1:95825547:C:T
96483970 9 1:96435899:T:G
96980682 122 1:96927229:C:T
97117915 4 1:97117088:C:A
98042162 66 1:98025826:G:A
98166450 4 1:98112647:A:T
12597961 128 1:9820911:G:C
98801011 74 1:98783361:G:A
100222968 71 2:100181450:A:G
100272668 18 2:100264077:A:G
101921340 44 2:101803430:G:A
103837887 182 2:103809919:G:T
104816576 15 2:104798021:G:A
105312447 63 2:104946061:A:C
105361319 17 2:105361319:G:A
105802660 82 2:105774715:G:A
113239195 21 2:113197052:G:A
113226456 16 2:113200060:A:G
113304814 38 2:113283857:T:C
129178900 578 2:127097332:G:C
127791603 10 2:127684440:C:T
135950412 11 2:135859184:C:T
136765244 12 2:136752034:G:T
137658821 3 2:137658821:T:G
139119365 54 2:139119337:T:G
140415201 90 2:140254714:C:T
141611505 15 2:141535577:C:A
148167789 183 2:142053232:T:C
148175489 186 2:142715511:G:T
143247940 127 2:143199130:T:G
148184672 174 2:144429182:C:T
144870408 29 2:144868103:G:A
147193149 31 2:147145814:A:G
14908511 12 2:14898776:T:C
15569934 448 2:15279732:T:A
154302396 18 2:154170934:A:G
155274397 187 2:154827826:A:G
155799161 27 2:155773181:C:T
156252883 16 2:156207550:G:A
157687188 98 2:156736851:A:G
15722963 28 2:15702524:C:T
157237217 23 2:157235099:C:T
166135508 95 2:158804999:C:T
160500206 25 2:160400330:C:T
161923569 15 2:161903685:C:T
166135508 332 2:163733098:T:C
16396564 632 2:16396564:G:A
164830676 44 2:164390700:A:T
164830676 32 2:164689105:C:T
166135508 142 2:165397891:T:G
166136824 10 2:166097109:T:C
168309772 55 2:168228349:T:C
18155665 104 2:16843994:C:T
169723184 918 2:168977681:T:A
170767905 71 2:170748985:T:C
171878819 66 2:171707412:G:A
175774412 196 2:173205383:C:A
175792525 501 2:173605175:A:G
174306064 2 2:174301908:G:A
176145823 47 2:175037424:C:A
180942022 94 2:178780850:C:T
181960635 319 2:179454938:T:C
180650228 26 2:180466023:T:C
180753927 7 2:180753927:A:G
182248424 79 2:182210962:C:T
188202820 352 2:185992652:C:T
187486248 72 2:187417603:T:A
187935461 74 2:187912737:A:G
191934430 27 2:191932701:A:C
192157880 31 2:192110723:T:C
193132581 68 2:192946915:T:C
198090050 64 2:198085516:G:A
200152929 54 2:199984173:G:A
205210066 38 2:202029242:A:G
203302651 56 2:203234499:A:G
208266043 296 2:204298924:A:C
204521519 3 2:204511186:C:A
206201750 34 2:206043330:C:T
207522961 207 2:206281182:G:T
207112408 6 2:207094073:T:C
207522961 48 2:207304229:G:A
210787429 32 2:210743655:T:G
211179960 85 2:211173492:A:G
211427796 7 2:211399113:T:C
211742198 1 2:211742198:T:C
212549541 4 2:212549541:A:G
214541401 36 2:214538202:C:T
216473060 2 2:216467334:T:G
218810344 291 2:218419492:G:A
219342574 22 2:219341207:A:C
2218679 44 2:2199092:G:T
221946164 247 2:220665158:A:G
221452825 35 2:221445521:C:T
233211200 270 2:228055251:T:C
228152201 131 2:228119276:T:C
229961429 40 2:229738903:C:T
229839058 13 2:229760951:A:G
232238104 112 2:231884752:A:G
237433401 722 2:234522362:C:T
235920302 49 2:235904909:A:G
235948245 19 2:235938674:C:T
241872311 965 2:239801248:G:C
2113029 1185 2:239969:C:T
240424310 42 2:240373796:A:T
241726432 4 2:241669569:A:G
24927772 8 2:24920780:C:G
25118132 12 2:25118132:G:A
25166355 37 2:25142045:G:A
26734528 23 2:26730714:T:G
27637391 15 2:27508073:T:C
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1972733 23 19:1955889:G:A
2245623 1 19:2245623:G:A
29835693 27 19:29786822:C:T
30219503 9 19:30192972:T:C
30299794 9 19:30272457:A:G
31008667 577 19:30448536:A:G
30535647 50 19:30526779:C:A
5357326 265 19:3118121:A:G
35286082 145 19:32333404:C:A
35298871 300 19:32620852:C:T
5174014 108 19:329746:G:A
35026361 436 19:33282198:A:G
33503950 44 19:33486300:C:G
34437150 41 19:33555929:G:A
5357326 267 19:3361728:A:G
33825800 5 19:33820576:T:C
4064059 9 19:4056209:C:A
41926690 32 19:40830890:T:C
42194901 63 19:42099624:A:G
5174014 91 19:4444446:C:T
44908684 1 19:44908684:T:C
52064993 129 19:44910319:C:T
50803045 40 19:45611571:C:T
48559579 746 19:45679046:T:A
45679046 5 19:45679046:T:A
47118059 24 19:47061386:C:T
47065746 2 19:47065746:G:A
49150749 11 19:49143219:C:G
52086746 130 19:49831638:C:T
50629489 1 19:50629489:G:A
51278201 27 19:51137073:C:G
51315592 11 19:51315592:T:C
5357326 192 19:5268044:C:T
10380316 90 20:10248046:A:G
12458927 56 20:12433023:C:T
12723481 13 20:12723481:C:G
1429113 39 20:1429113:C:T
15820955 35 20:15820955:T:C
15851654 9 20:15832830:C:G
16609397 19 20:16560444:T:C
17148100 43 20:17108317:C:G
17148100 19 20:17148100:C:A
17314465 32 20:17256260:C:A
18609101 151 20:18315432:G:A
19431608 816 20:19244545:A:T
21454319 19 20:21100716:C:T
3847503 31 20:2113432:T:C
21604974 44 20:21479800:C:A
21555002 12 20:21534325:G:A
22926079 944 20:22500136:G:A
25610108 5 20:25214873:A:G
25421226 3 20:25421226:A:C
26252163 1 20:26252163:C:T
3045423 41 20:3020700:G:C
31752804 4 20:31645269:A:G
31929243 45 20:31868624:C:T
38089657 180 20:32047433:T:G
34109733 55 20:34016121:T:A
38089657 459 20:36787037:G:A
38052517 263 20:37929716:G:A
49876715 57 20:40669905:A:G
4424047 376 20:4242807:C:T
43386003 15 20:43362121:T:C
50289662 662 20:44803639:C:T
49961699 56 20:44907814:C:T
46285965 13 20:46276678:G:A
49975221 88 20:47736892:C:T
49072499 21 20:48881580:G:A
55334617 147 20:51777440:G:A
52593064 19 20:52593064:A:G
55389992 272 20:53107774:G:T
55352273 85 20:53329344:C:A
54910533 60 20:54890411:G:T
55582488 5 20:55582488:A:T
55885144 66 20:55810586:C:A
56174330 316 20:56173092:C:T
60393354 236 20:58996708:A:G
60393354 225 20:59643833:G:A
62946277 11 20:62899563:T:A
64281925 383 20:63430236:G:A
63765572 11 20:63748394:C:T
63910065 16 20:63909914:A:C
64060197 1 20:64060197:G:C
6654862 18 20:6654248:T:C
8427897 22 20:8422212:A:G
9145505 32 20:9070835:G:A
9582502 19 20:9535483:C:T
9915966 60 20:9849606:C:T
14972624 13 21:14956813:A:G
16397565 419 21:16030754:C:T
16440214 32 21:16405573:T:C
23828124 8 21:23825335:A:T
25324990 542 21:24570897:T:C
31293072 30 21:31263756:G:A
32918574 26 21:32839661:G:A
34345250 504 21:32954421:T:A
44164640 40 21:37513203:C:T
37874793 10 21:37865099:T:A
39686947 33 21:38758849:C:T
38937668 3 21:38937512:C:G
39311814 7 21:39255094:A:C
40078584 26 21:40059947:T:C
41281640 13 21:41261138:A:G
44162103 47 21:42548749:G:A
43060173 52 21:43047581:A:G
45069044 2 21:45067815:T:C
45163632 41 21:45090401:G:T
45226090 33 21:45226090:T:C
46636464 3 21:46628861:A:G
23054238 202 22:17664802:G:A
17748188 60 22:17744231:C:G
20121802 11 22:19962712:C:T
21980565 49 22:21719984:C:T
27225190 94 22:25728470:G:A
26535255 6 22:26525759:A:G
27329518 157 22:26896620:T:C
27225190 41 22:27061731:A:G
27865125 205 22:27250908:C:A
33190173 553 22:30896262:G:A
31880252 88 22:31717178:T:G
37595628 29 22:36563172:G:A
38253147 121 22:38180819:G:A
43514959 625 22:38890394:T:C
39361651 18 22:39356998:T:C
40324700 16 22:40292405:A:G
41408712 1 22:41408712:G:A
42625707 37 22:42625601:C:T
46413905 121 22:46266600:A:G
47990921 1 22:47990921:C:T
48485750 8 22:48478600:G:T
50735620 420 22:48531323:T:C
49076651 42 22:49032363:G:A
50283979 1 22:50283979:T:C
rts. Fine mapping was performed separately in European
estry meta-analysis including UKB, GHS, and MCPS was
Sentinel Variant (dbSNP rsID) AAF for sentinel variant PPA for sentinel variant
rs1335055 0.66 0.09
rs12035149 0.22 0.42
rs17465581 0.29 0.10
rs11121615 0.69 0.24
rs1660420 0.71 0.12
rs149841512 0.02 0.10
rs6537837 0.18 0.16
rs17024393 0.03 0.60
rs4839019 0.58 0.77
rs518785 0.77 0.23
rs2791643 0.76 0.20
rs1546924 0.53 0.40
rs3124031 0.69 0.17
rs7549358 0.64 0.07
rs59051938 0.25 0.20
rs12569355 0.12 0.16
rs12123832 0.35 0.08
rs10923715 0.44 0.41
rs12750810 0.07 0.05
rs6587552 0.77 0.92
rs1194610 0.23 0.30
rs67052410;rs368261471 0.74 0.04
rs870031 0.23 0.61
rs1218582 0.55 0.26
rs3753639 0.24 0.89
rs114973352 0.03 0.62
rs12079134 0.46 0.03
rs112685832 0.11 0.24
rs61813324 0.13 0.26
rs11264483 0.61 0.27
rs10927823 0.34 0.78
rs78886584 0.49 0.17
rs72634826 0.25 0.44
rs4920608 0.64 0.21
rs34720381 0.09 0.30
rs61828898 0.11 0.02
rs16847730 0.12 0.12
rs77560793 0.03 0.02
rs34104622 0.34 0.11
rs12136329 0.20 0.19
rs661691 0.21 1.00
rs676514 0.94 1.00
rs1336780 0.74 1.00
rs506589 0.21 0.17
rs539290461 0.05 0.03
rs699245 0.48 0.02
rs11577970 0.30 0.03
rs9425634 0.45 0.12
rs815163 0.56 0.09
rs1246698 0.70 0.12
rs28640257 0.50 0.08
rs1890660 0.72 0.20
rs61830986 0.05 0.16
rs4474229 0.37 0.06
rs12024554 0.24 0.13
rs12067305 0.27 0.18
rs13373920 0.27 0.10
rs12403004 0.13 0.13
rs141831083 0.11 0.82
rs2678204 0.34 0.24
rs61821487 0.09 0.20
rs3934809 0.57 0.27
rs12121078 0.49 0.14
rs60226453 0.39 0.07
rs4971239 0.17 0.46
rs76739209 0.03 0.62
rs6685593 0.49 0.08
rs1078719 0.21 0.14
rs1360278 0.65 0.09
rs79960084 0.13 0.08
rs11119426 0.19 0.20
rs12134357 0.29 0.40
rs116788687 0.02 0.18
rs12027371 0.46 0.07
rs7538503 0.52 0.23
rs4846571 0.47 0.03
rs2184658 0.19 0.19
rs10799778 0.83 0.04
rs4123234 0.80 0.14
rs2809891 0.22 0.08
rs10803140 0.54 0.77
rs6688135 0.87 0.09
rs7535528 0.37 0.87
rs11581480 0.46 0.41
rs6684464 0.25 0.19
rs945211 0.62 0.94
rs3737992 0.17 0.03
rs4233201 0.67 0.03
rs10914782 0.52 0.07
rs12031634 0.29 0.67
rs7549758 0.21 0.18
rs1466423 0.39 0.83
rs56052141 0.51 0.24
rs16826068 0.17 0.15
rs2002968 0.26 1.00
rs11206390 0.33 0.20
rs35042446 0.03 0.91
rs658303 0.56 0.09
rs4654441 0.42 0.25
rs615150 0.96 0.12
rs11211176 0.54 0.15
rs7525145 0.59 0.12
rs1167309 0.68 0.04
rs79451801 0.30 0.03
rs646534 0.45 0.16
rs56059850 0.12 0.04
rs72664318 0.09 0.24
rs76484449 0.10 0.07
rs75521739 0.03 0.04
rs12039166 0.20 0.10
rs41313250 0.12 0.97
rs12140153 0.09 1.00
rs1496023 0.53 0.17
rs11208659 0.08 0.36
rs7519259 0.53 0.18
rs11122109 0.34 0.13
rs1938450 0.33 0.07
rs72674346 0.04 0.02
rs3101338 0.80 0.90
rs3101337 0.61 0.54
rs2815764 0.81 0.31
rs7525548 0.56 0.08
rs11210489 0.53 0.09
rs1891215 0.46 0.37
rs61777072 0.11 0.64
rs34517439 0.12 1.00
rs1494858 0.42 0.06
rs12088287 0.30 0.02
rs284221 0.75 0.07
rs28726372 0.31 0.04
rs3768256 0.34 0.34
rs6697083 0.39 0.94
rs12089815 0.54 0.59
rs114993052 0.22 0.25
rs6422513 0.79 0.02
rs11164968 0.97 0.19
rs114495530 0.03 0.90
rs6703258 0.56 0.22
rs10747478 0.59 0.19
rs2932317 0.50 0.13
rs6702924 0.28 0.33
rs4950120 0.84 0.02
rs6694396 0.35 0.81
rs12125351 0.03 0.20
rs981874 0.70 0.10
rs12712072 0.24 0.05
rs6724490 0.19 0.10
rs10496360 0.30 0.04
rs17343925 0.45 0.02
rs6754968 0.34 0.09
rs10172834 0.26 0.05
rs3087523 0.12 0.20
rs4851863 0.41 0.13
rs45582641 0.05 0.10
rs2015769 0.48 0.08
rs7587376 0.63 0.07
rs182665131 0.02 0.14
rs6730142 0.24 0.92
rs182549 0.72 0.27
rs6732148 0.47 0.23
rs12053559 0.47 0.93
rs7602708 0.40 0.03
rs5023613 0.44 0.08
rs17551974 0.18 0.11
rs72847098 0.15 0.35
rs36118164 0.28 0.25
rs6709690 0.14 0.01
rs12614546 0.46 0.30
rs16824165 0.11 0.06
rs429343 0.58 0.14
rs3900422 0.53 0.19
rs721858 0.45 0.03
rs12620249 0.15 0.82
rs2652460 0.53 0.06
rs16839578 0.34 0.14
rs12990968 0.58 0.11
rs6716032 0.21 0.74
rs8179878 0.51 0.18
rs834132 0.09 0.69
rs11679019 0.30 0.22
rs10165985 0.69 0.13
rs6734760 0.56 0.13
rs1460670 0.79 0.44
rs72774401 0.71 0.67
rs581509 0.35 0.16
rs75297654 0.12 0.12
rs4667812 0.24 0.03
rs51195 0.40 0.23
rs10176669 0.70 0.15
rs12465244 0.42 0.11
rs78001204 0.08 0.10
rs6433243 0.65 0.03
rs312925 0.28 0.05
rs3769159 0.20 0.33
rs675961 0.15 0.04
rs34234296 0.39 0.84
rs12622518 0.11 0.42
rs2054708 0.41 0.21
rs116588569 0.02 0.10
rs1453059 0.28 0.23
rs6741676 0.34 0.28
rs114049355 0.06 0.14
rs16827374 0.08 0.24
rs2882203 0.39 0.06
rs12477366 0.55 0.06
rs13413304 0.23 0.24
rs12693626 0.67 0.26
rs12478299 0.25 0.57
rs1064213 0.48 0.14
rs4673627 0.56 0.09
rs72934680 0.21 0.37
rs2351774 0.58 0.11
rs6745826 0.61 0.11
rs4482463 0.92 0.56
rs138964083 0.06 0.35
rs13000757 0.50 0.22
rs1263616 0.24 0.33
rs72957922 0.15 0.15
rs4673553 0.45 0.41
rs2164840 0.65 0.05
rs16846049 0.28 0.76
rs75404170 0.11 0.96
rs13427822 0.27 0.32
rs10188314 0.47 0.26
rs284532 0.52 0.85
rs55658481 0.34 0.10
rs11683846 0.85 0.12
rs12467644 0.15 0.07
rs11896343 0.52 0.05
rs7568059 0.25 0.07
rs62201071 0.46 0.19
rs67606545 0.35 0.01
rs13392809 0.47 0.23
rs60822591 0.33 0.15
rs11902683 0.21 0.12
rs74910197 0.05 0.18
rs6744259 0.77 0.04
rs10208807 0.55 0.19
rs2412043 0.44 0.09
rs4497901 0.24 0.05
rs34352794 0.26 0.11
rs6437277 0.77 0.49
rs6746013 0.48 0.25
rs13418905 0.70 0.40
rs57703366 0.33 0.22
rs1731259 0.47 0.07
rs1260326 0.60 0.81
rs79716074 0.35 0.05
rs72814433 0.08 0.24
rs4665434 0.61 0.25
rs4584985 0.33 0.05
rs12472160 0.21 0.49
rs6543913 0.56 0.02
rs6544006 0.09 0.10
rs3732075 0.25 0.40
rs2372604 0.38 0.25
rs11677279 0.66 0.17
rs12328524 0.06 0.13
rs6713781 0.40 0.69
rs78292764 0.18 0.08
rs10169594 0.36 0.09
rs62106258 0.05 0.59
rs2667198 0.29 0.24
rs62107261 0.02 0.54
rs1561507 0.57 0.05
rs7609431 0.66 0.02
rs17035437 0.09 0.46
rs35943760 0.46 0.10
rs11676545 0.70 0.08
rs7561278 0.22 1.00
rs1369295 0.84 0.07
rs10184537 0.34 0.65
rs4971687 0.75 0.18
rs9677124 0.51 0.38
rs968972 0.65 0.35
rs10206043 0.82 0.18
rs13404253 0.33 0.07
rs11125450 0.51 0.15
rs59428052 0.15 0.30
rs969767 0.61 0.08
rs7601895 0.30 0.46
rs10206496 0.07 0.02
rs72803075 0.29 0.67
rs5021156 0.17 0.07
rs6744844 0.44 0.15
rs6759145 0.44 0.38
rs7573672 0.28 0.96
rs13416992 0.60 0.24
rs4671358 0.60 0.76
rs13026335 0.25 0.49
rs2609182 0.35 0.42
rs45600937 0.12 0.25
rs2195086 0.16 0.07
rs2860323 0.91 0.12
rs398080008;rs34700815;rs397871557 0.61 0.35
rs10192894 0.44 0.40
rs6744646 0.83 0.26
rs2861685 0.41 0.20
rs4852231 0.55 0.99
rs10186440 0.58 0.20
rs13030828 0.05 0.19
rs61704509 0.12 0.20
rs2287135 0.83 0.09
rs145976412 0.01 0.21
rs406471 0.37 0.15
rs5001219 0.12 0.21
rs78812411 0.12 0.02
rs10520327 0.34 0.06
rs2367546 0.65 0.21
rs7572852 0.13 0.08
rs11683207 0.17 0.99
rs10207981 0.26 0.26
rs3846092 0.08 0.03
rs78160364 0.06 0.20
rs1848033 0.12 0.07
rs4684683 0.05 0.60
rs9850907 0.59 0.12
rs11915534 0.36 0.18
rs2399213 0.18 0.16
rs1471093 0.62 0.47
rs6786808 0.49 0.28
rs2933289 0.32 0.62
rs4428159 0.09 0.93
rs6799473 0.28 0.07
rs17619973 0.07 0.14
rs13072722 0.43 0.83
rs142051143 0.04 0.03
rs67641513 0.12 0.29
rs2918217 0.14 0.28
rs73027141 0.02 0.32
rs2574707 0.53 0.06
rs1218626 0.71 0.09
rs1456192 0.69 0.13
rs7637943 0.36 0.47
rs2970114 0.36 0.44
rs11917714 0.17 0.03
rs6789801 0.54 0.24
rs2972166 0.27 0.66
rs11712037 0.13 0.22
rs12330631 0.37 0.30
rs17036326 0.12 0.11
rs13100104 0.21 0.05
rs114923410 0.10 0.65
rs1909586 0.60 0.35
rs7642088 0.12 0.13
rs76594121 0.05 0.22
rs2713575 0.50 0.03
rs2255964 0.66 0.19
rs17293396 0.50 0.06
rs11709402 0.27 0.66
rs1531375 0.90 0.35
rs1824544 0.63 1.00
rs11928040 0.71 0.07
rs7653440 0.54 0.69
rs354477 0.45 0.04
rs10935143 0.45 0.16
rs9818740 0.27 0.09
rs1394092 0.73 0.05
rs194146 0.81 0.16
rs6797652 0.49 0.08
rs6800802 0.09 0.04
rs6767786 0.34 0.06
rs76152047 0.07 0.15
rs140246657 0.32 0.04
rs3804771 0.15 0.54
rs12695835 0.41 0.23
rs7632016 0.60 0.47
rs9833368 0.12 0.06
rs12634936 0.06 0.92
rs55747865 0.16 0.04
rs400529 0.53 0.19
rs4600855 0.40 0.93
rs9844816 0.15 0.02
rs2470536 0.59 0.02
rs6809307 0.26 0.05
rs35707587;rs796270585 0.51 0.02
rs6777853 0.56 0.03
rs143173864 0.12 0.20
rs138707739 0.17 0.07
rs528355 0.44 0.08
rs308703 0.41 0.02
rs329080 0.51 0.18
rs7653834 0.31 0.05
rs5398 0.29 0.15
rs13085472 0.66 0.31
rs12635614 0.51 0.50
rs577997 0.19 0.08
rs1502461 0.17 0.19
rs2035831 0.33 0.25
rs1377825 0.44 0.10
rs12490455 0.57 0.05
rs61796872 0.07 0.61
rs1183319 0.58 0.33
rs1805207 0.64 0.20
rs6443750 0.81 0.99
rs73034316 0.12 0.04
rs16833232 0.31 0.04
rs865519 0.64 0.14
rs11546878 0.17 0.99
rs73052033 0.18 0.41
rs4619804 0.74 0.16
rs9879452 0.62 0.45
rs11906885 0.36 0.11
rs11927266 0.32 0.21
rs62237499 0.28 0.15
rs2335509 0.61 0.55
rs1145041 0.50 0.33
rs143623009 0.04 0.10
rs6780762 0.50 0.05
rs7619139 0.59 0.89
rs12631108 0.18 0.06
rs75129960 0.12 0.14
rs13076741 0.68 0.42
rs80082536 0.12 0.62
rs962038 0.35 0.16
rs11707955 0.47 0.40
rs111768603 0.11 0.16
rs1348252 0.75 0.94
rs3890974 0.64 0.21
rs62246178 0.14 0.08
rs1554654 0.47 0.24
rs13076052 0.27 0.53
rs55676934 0.33 0.41
rs72906474 0.58 0.81
rs2230590 0.52 0.17
rs9838433 0.85 0.06
rs7642881 0.09 0.13
rs7617468 0.61 0.10
rs2239548 0.39 0.09
rs576359 0.92 0.18
rs719260 0.24 0.21
rs3796349 0.39 0.26
rs2703025 0.81 0.08
rs12489018 0.56 0.48
rs4688352 0.67 0.03
rs4453834 0.26 0.10
rs1524019 0.41 0.33
rs2886521 0.11 0.19
rs80307599 0.07 0.28
rs6445258 0.80 0.56
rs76824303 0.10 0.95
rs557951 0.32 0.36
rs7644552 0.14 0.32
rs704375 0.56 0.17
rs12637959 0.11 0.04
rs1586070 0.58 0.51
rs1482590 0.21 0.09
rs2306272 0.28 0.23
rs111735673 0.01 0.67
rs56038322 0.31 0.84
rs73837030 0.21 0.06
rs13078509 0.02 0.90
rs1529669 0.31 0.16
rs56393771 0.45 0.09
rs7630228 0.43 0.33
rs775741 0.59 0.07
rs34822121 0.15 0.06
rs3773192 0.73 0.94
rs12186011 0.52 0.06
rs6766472 0.30 0.05
rs1554193 0.52 0.31
rs13340130 0.34 0.06
rs56053058 0.17 0.02
rs9878472 0.53 0.14
rs2122042 0.21 0.15
rs2048591 0.63 0.18
rs73132546 0.11 0.16
rs7614534 0.54 0.03
rs12494891 0.41 0.16
rs13073568 0.52 0.20
rs111979419 0.10 0.24
rs569216 0.47 0.03
rs7377083 0.43 0.98
rs112519623 0.02 0.19
rs13107325 0.08 0.88
rs7695096 0.48 0.03
rs2739200 0.70 0.04
rs2597885 0.66 0.11
rs11735892 0.35 0.44
rs28454448 0.71 0.10
rs9996762 0.19 0.04
rs7697022 0.74 0.10
rs34278750 0.29 0.02
rs4504231 0.48 0.12
rs62324376 0.30 0.05
rs4315805 0.39 0.22
rs2955477 0.66 0.16
rs869090 0.42 0.25
rs112314153 0.06 0.05
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rs6029512 0.02 0.14
rs59830494 0.31 0.10
rs12480027 0.45 0.10
rs4815675 0.61 0.27
rs6103254 0.12 0.19
rs6103872 0.22 0.06
rs8356 0.27 0.06
rs2425841 0.41 0.12
rs56218501 0.21 0.32
rs112852122 0.16 0.58
rs62228193 0.34 0.20
rs13043475 0.19 0.10
rs73142266 0.10 0.03
rs2749122 0.51 0.17
rs4811544 0.76 0.16
rs559390 0.34 0.50
rs6098816 0.19 0.04
rs6127658 0.28 0.22
rs9760 0.64 0.09
rs7273927 0.15 0.13
rs6011457 0.50 0.30
rs12480834 0.24 0.12
rs2872979 0.34 0.23
rs817384 0.39 0.11
rs6512302 0.74 0.99
rs2206925 0.64 0.22
rs708913 0.21 0.27
rs2180672 0.81 0.07
rs6039493 0.29 0.23
rs6118758 0.36 0.08
rs2736084 0.54 0.76
rs60984707 0.19 0.17
rs2823784 0.64 0.08
rs207463 0.64 0.21
rs9981830 0.75 0.10
rs2833354 0.10 0.09
rs77747985 0.10 0.05
rs73200410 0.02 0.05
rs17193211 0.07 0.87
rs915571 0.73 0.23
rs2836668 0.39 0.17
rs13047416 0.38 0.87
rs2836961 0.38 0.27
rs2249498 0.45 0.26
rs4818226 0.68 0.15
rs228085 0.61 0.11
rs11909493 0.85 0.27
rs79585412 0.06 0.65
rs2838774 0.05 0.10
rs2838820 0.58 0.37
rs140733155 0.01 0.76
rs62240487 0.04 0.05
rs406388 0.18 0.18
rs4633 0.52 0.41
rs113304165 0.19 0.22
rs17696356 0.14 0.28
rs4275 0.43 0.40
rs8135943 0.58 0.06
rs9613362 0.71 0.33
rs513651 0.69 0.16
rs62238093 0.02 0.11
rs117519233 0.19 0.10
rs6000329 0.56 0.75
rs2267370 0.34 0.27
rs132503 0.20 0.03
rs2003675 0.07 0.08
rs2008569 0.34 0.18
rs28489620 0.29 1.00
rs137133 0.12 0.73
rs74766656 0.10 0.06
rs9615723 0.56 0.99
rs10854853 0.46 0.24
rs133476 0.29 0.08
rs2073225 0.75 0.12
rs79966207 0.18 0.98
Gene nearest to sentinel variant Sentinel variant effect
PRMT6
NTNG1 intronic
NTNG1 intronic
CASZ1 intronic
SLC25A24
CELSR2 intronic
GNAI3 intronic
GNAT2 3_prime_UTR;intronic
PROK1
CD53
MTOR intronic
FAM212B intronic
CTTNBP2NL
NRAS intronic
SPAG17
NPPB upstream
TBX15 intronic
TBX15 upstream
RP11-235D19.4 intronic
BNIPL upstream
AQP10 synonymous;upstream
SHE intronic
KCNN3 intronic
KCNN3 upstream
ZBTB7B upstream;downstream
EFNA4,RP11-540D14.8 downstream
ASH1L intronic
GON4L intronic
MEX3A upstream;intronic
C1orf61
RSC1A1 3_prime_UTR
FAM231B
SLC35E2B intronic
ATP13A2 downstream
PRRC2C intronic
RC3H1 intronic
MRPS14 upstream
MRPS14
PAPPA2
BRINP2
SEC16B
SEC16B
SEC16B
SEC16B downstream
TEX35
SMG7 3_prime_UTR
IGSF21
EDEM3 synonymous
BRINP3 intronic
RGS18
TMEM52 downstream;downstream;missense
TROVE2 upstream
CDC73
KCNT2
MINOS1 intronic
CRB1 intronic
NEK7
PTPRC intronic
NR5A2
IPO9 downstream
TIMM17A splice_region
ARL8A downstream;intronic
SYT2 upstream
OPTC
OPTC
OPTC
OPTC
NFASC intronic
CAMK1G
CAMK1G
SYT14,AL022397.1 3_prime_UTR
RAP1GAP intronic
HSPG2 missense
ZC3H11B
ZC3H11B upstream
ZC3H11B
HLX upstream
LACTBL1
PLD5 intronic
CEP170
SDCCAG8 intronic
AKT3 intronic
PANK4 missense
MATN1
PUM1 intronic
ADGRB2 downstream
KIAA1522 intronic
PHC2 upstream
CSMD2 intronic
CSMD2 intronic
C1orf94
POU3F1
POU3F1
MACF1 upstream
BMP8A intronic
PABPC4
RLF missense
GUCA2B
AJAP1
AKR1A1 downstream
IPP
TAL1 intronic
AGBL4 intronic
C1orf185
SSBP3 intronic
SSBP3 intronic
PLPP3 intronic
DAB1 intronic
NFIA intronic
NFIA intronic
PATJ splice_region
PATJ missense
UBE2U
LEPR intronic
PDE4B intronic
THAP3 intronic;downstream
DIRAS3
DEPDC1 intronic
NEGR1 upstream
NEGR1 upstream
NEGR1
TNNI3K,FPGT-TNNI3K intronic;intronic
ERICH3 intronic
CAMTA1 intronic
AK5 intronic
FUBP1
ADGRL4
ADGRL4
ADGRL2 intronic
TTLL7 intronic
DNASE2B intronic
DDAH1 intronic
BARHL2
BARHL2
EVI5 intronic
BCAR3 intronic
RWDD3
RWDD3
PTBP2
PTBP2
DPYD intronic
DPYD
DPYD
CLSTN1 intronic
SNX7
AFF3
LONRF2
MAP4K4 intronic
TMEM182
POU3F3
POU3F3
FHL2 synonymous
NCK2 intronic
PSD4 intronic
PSD4 intronic
PAX8 upstream
BIN1 intronic
LIMS2 upstream
MCM6 intronic
THSD7B
THSD7B intronic
NXPH2
LRP1B intronic
LRP1B intronic
LRP1B intronic
KYNU
ARHGAP15 intronic
ZEB2 intronic
ZEB2
ACVR2A
FAM84A
NBAS intronic
GALNT13 intronic
KCNJ3 intronic
NR4A2
NR4A2
GPD2
DDX1
GALNT5
DAPL1 intronic
RBMS1 intronic
SLC4A10 intronic
FIGN intronic
FAM49A
GRB14
COBLL1 intronic
SCN2A
SCN1A intronic
STK39 intronic
FAM49A
ABCB11 intronic
SP5
DYNC1I2 intronic
AC013461.1 intronic
CDCA7
SP9
CHN1
TTN intronic
ZNF385B intronic
CWC22
UBE2E3
PDE1A intronic
FSIP2
CALCRL intronic
TFPI
TMEFF2
TMEFF2 intronic
TMEFF2
PLCL1 missense
C2orf47
FZD7
CYP20A1 upstream
PARD3B
PARD3B
INO80D intronic
ZDBF2 intronic
KLF7 intronic
KLF7
CPS1
ERBB4
ERBB4 intronic
ERBB4 intronic
ERBB4
VWC2L intronic
SMARCAL1 intronic
VIL1 upstream
RESP18
MYT1L intronic
EPHA4
EPHA4 intronic
SPHKAP intronic
SPHKAP intronic
DNER
TRIP12 downstream
NPPC
ARL4C
AGAP1 intronic
AGAP1 intronic
NDUFA10
SH3YL1 3_prime_UTR
GPC1
ATG4B intronic
ADCY3 upstream
EFR3B intronic
EFR3B intronic
KCNK3 3_prime_UTR
GCKR missense
ACP1 missense;downstream
BRE intronic
PPP1CB intronic
ALK intronic
LTBP1
CRIM1
CRIM1
CRIM1 intronic
FEZ2 upstream
VIT intronic
RMDN2
SLC8A1
SLC8A1 intronic
C2orf91
FAM150B
FAM150B
FAM150B
MTA3 downstream
CAMKMT downstream
CRIPT
SOCS5
DCDC2C
LHCGR,STON1-GTF2A1L intronic;intronic
NRXN1 intronic
NRXN1 intronic
NRXN1 intronic
NRXN1 intronic
NRXN1 intronic
NRXN1
ASB3,GPR75-ASB3
ASB3,GPR75-ASB3
ASB3,GPR75-ASB3
SOX11
RTN4 upstream
TMEM18
CCDC85A intronic
SOX11 upstream
FANCL
FANCL
FANCL
FANCL
BCL11A
BCL11A
SOX11
BCL11A 3_prime_UTR
BCL11A
TMEM18
SOX11
EHBP1
TMEM18
ETAA1
AAK1 intronic
AAK1 intronic
PCBP1
REG3A intronic
ID2
CTNNA2 intronic
CTNNA2 intronic
CTNNA2 intronic
CTNNA2
CTNNA2
RNF103-CHMP3 intronic
FAM178B intronic
ZAP70 intronic
REV1 intronic
SENP7 intronic
TRMT10C upstream
ZPLD1
ATP2B2 intronic
ALCAM
ALCAM
BBX intronic
HHLA2 intronic
MYH15 intronic
SLC6A11
HRH1 intronic
BOC intronic
ZBTB20 intronic
ZBTB20 intronic
GAP43
GAP43 intronic
LSAMP intronic
VGLL4 intronic
VGLL4 intronic
LSAMP
IGSF11
IGSF11
IGSF11
NR1I2 intronic
NDUFB4 downstream
PPARG
PPARG intronic
ADCY5 intronic
PPARG upstream
HACD2 intronic
CNTN6 intronic
HEG1 3_prime_UTR
SNX4 intronic
DNAJB8 upstream
RPN1
IQSEC1 intronic
CPNE4 intronic
CPNE4 intronic
CPNE4 intronic
CPNE4 intronic
CPNE4 intronic
CPNE4 5_prime_UTR
NUP210 intronic
EPHB1 intronic
MSL2
STAG1 intronic
MRAS intronic
CLSTN2 intronic
SPSB4
ZBTB38 upstream
ZBTB38
RASA2 intronic
TFDP2 intronic
ZIC4
ZIC4 downstream
ZIC1
ZIC1
ARHGEF26
ARHGEF26 intronic
PLCH1
SSR3
ANKRD28 intronic
CCNL1 downstream
VEPH1 intronic
RSRC1 intronic
RSRC1 intronic
IL12A
OTOL1
OTOL1
GOLIM4
PLCL2 synonymous
SLC2A2 synonymous
TNIK intronic
NLGN1 upstream
NLGN1 intronic
NLGN1 intronic
NLGN1 intronic
TBL1XR1
TBL1XR1 intronic
KCNMB2,RP11-385J1.3 intronic;intronic
KCNMB3 5_prime_UTR
DNAJC19
SOX2
SATB1
ATP11B
YEATS2 intronic
ECE2 missense;downstream
ETV5 upstream
SATB1
XXYLT1 intronic
UBXN7 intronic
DLG1 intronic
SGO1
ZNF385D
CNTN4 intronic
RARB
RARB
RARB
CNTN4 intronic
PDCD6IP
PDCD6IP
ARPP21
ARPP21 upstream
ULK4 intronic
CCK
LYZL4
KLHL40 upstream
SNRK
TOPAZ1
LINC00694
CDCP1
SMARCC1 intronic
MST1R missense
DOCK3 intronic
DUSP7
ITIH4 intronic
ITIH4 intronic
CACNA1D intronic
CACNA1D intronic
CACNA1D intronic
CACNA2D3 intronic
FHIT intronic
PTPRG intronic
PTPRG intronic
PTPRG
PTPRG
PTPRG intronic
PTPRG intronic
CADPS intronic
CADPS intronic
CADPS
PSMD6
ADAMTS9
MAGI1
MAGI1
LRIG1 missense
MITF intronic
MITF intronic
RP11-231I13.2
FOXP1
FOXP1 intronic
FOXP1 intronic
EIF4E3
ROBO2 intronic
ROBO1
ROBO1 intronic
ROBO1
GBE1
GRM7
GBE1 intronic
GBE1
CADM2 intronic
CADM2 intronic
CADM2
ZNF654 intronic
EPHA3
EPHA3
NSUN3
SETD5 intronic
MTRNR2L12
BANK1 upstream
SLC39A8 missense
SLC39A8 missense
SLC9B2 intronic
PITX2 5_prime_UTR
C4orf32
ALPK1 intronic
ARSJ
NDST3 intronic
SEC24D downstream
PDE5A
PDE5A
PRDM5
C4orf33
C4orf33
C4orf33
PABPC4L
PCDH18
NOCT
MAML3 intronic
MAML3 intronic
INPP4B intronic
GAB1 intronic
GYPA
HHIP
RP11-6L6.2
SLC10A7 intronic
GATB
GATB
FBXW7
FSTL5
FSTL5 intronic
FSTL5 intronic
TKTL2
MARCH1 intronic
LINC01207 intronic
LDB2 intronic
LDB2 intronic
AADAT
GALNTL6 intronic
GALNTL6 intronic
LCORL
LCORL
HELT
NELFA intronic
SLIT2
SLIT2 intronic
ANAPC4 missense
FAM193A intronic
STIM2 intronic
STIM2
PCDH7
PCDH7
PCDH7
PCDH7
PCDH7
RGS12
ARAP2
ARAP2
TBC1D1
KLF3
PHOX2B
BEND4 intronic
SHISA3
KCTD8 intronic
GNPDA2
GNPDA2
MSX1
SPATA18 intronic
USP46
RP11-231C18.3 intronic
PDGFRA,RP11-231C18.3
KIT
KIT
IGFBP7
ADGRL3
ADGRL3
TECRL
EPHA5
CENPC
CENPC
CENPC
ART3 intronic
CCNI intronic
ANTXR2
FGF5 3_prime_UTR
AFF1 intronic
ABCG2 intronic
ABCG2 intronic
PPM1K intronic
FAM13A intronic
GRID2 intronic
SMARCAD1
PDLIM5 intronic
UNC5C intronic
STPG2
TSPAN5 intronic
ADH1B missense
LAMTOR3 3_prime_UTR
NUDT12
EFNA5
EFNA5
EFNA5 intronic
FBXL17 intronic
FBXL17 intronic
PJA2
NREP intronic
MCC intronic
YTHDC2 missense
KCNN2
SEMA6A
TNFAIP8 intronic
TNFAIP8
FAM170A
PRR16
SNX2 intronic
CEP120
CEP120 intronic
ZNF608
HINT1
C5orf56 upstream
JADE2 intronic
SPOCK1 intronic
CDC25C 5_prime_UTR
CXXC5
HBEGF intronic
SPRY4
SPRY4
NR3C1 upstream
KCTD16
HTR4 intronic
PPARGC1B intronic
NMUR2
GRIA1
GRIA1 intronic
FAM114A2 intronic
GALNT10
CLINT1
EBF1
EBF1 intronic
EBF1 intronic
PTTG1
MAT2B
TENM2
TENM2
TENM2
TENM2
TENM2 intronic
TENM2 intronic
TENM2 intronic
TENM2 intronic
WWC1 intronic
RARS downstream
SLIT3 intronic
SLIT3 intronic
SLIT3 intronic
BASP1
RANBP17 intronic
RANBP17 intronic
FGF18 intronic
BASP1
UNC5A
FGFR4 missense
ADAMTS2 intronic
MAML1 intronic
CDH9
CDH9
IRX1
IRX1
IRX1
ZNF131 intronic
NNT
FGF10 intronic
ISL1
ISL1
PDE4D intronic
ZSWIM6 intronic
HTR1A
HTR1A
RGS7BP
CWC27 intronic
MAST4 intronic
ZNF366
ADCY2
ARHGEF28 intronic
ANKRD31 intronic
ADCY2 intronic
COL4A3BP intronic
POC5 upstream
ZBED3
PDE8B intronic
AP3B1 intronic
SCAMP1 intronic
C5orf49 intronic
THBS4
SSBP2 intronic
RASA1
CCNH
TMEM161B
MEF2C
MEF2C
ADGRV1 intronic
NR2F1
NR2F1
MCTP1 intronic
PCSK1
PCSK1
PCSK1
CAST
CAST intronic
RIOK2
SIM1
ASCC3 intronic
HACE1
LIN28B intronic
GCNT2 intronic
PDSS2 intronic
FOXO3 intronic
FOXO3 intronic
ARMC2
CD164
AK9 intronic
RFPL4B
MARCKS
NUS1
MAN1A1 intronic
MAN1A1
HIVEP1 intronic
TRDN intronic
NKAIN2 intronic
HEY2
RSPO3 intronic
C6orf58
PHACTR1 intronic
LAMA2 intronic
L3MBTL3 intronic
SMLR1 upstream
MED23 downstream
PHACTR1 intronic
CITED2
NMBR
HIVEP2
HIVEP2 intronic
PLAGL1 intronic
STXBP5
SYNE1 intronic
RGS17 intronic
OPRM1 intronic
OPRM1 upstream
NOX3
NOX3
ARID1B
SLC22A3 intronic
PARK2 intronic
QKI intronic
QKI
QKI
ATXN1 intronic
C6orf118
T
T
T
RNF144B
ID4
MBOAT1
E2F3 intronic
CDKAL1 intronic
CDKAL1 intronic
SOX4
PRL
NRSN1
GMNN
TRIM38
ABT1 downstream
PGBD1 downstream
UBD intronic
MRPS18B upstream
HLA-C upstream
MICB upstream
PRRC2A missense
DXO synonymous;upstream;downstream
HLA-DRB1 intronic
DAXX
IP6K3 downstream
MLN intronic
MLN
HMGA1 intronic
C6orf1 downstream;intronic
RPS10
C6orf106 upstream
ANKS1A intronic
ANKS1A intronic
GLP1R intronic
MOCS1
LRFN2
LRFN2
LRFN2 intronic
UNC5CL
PGC upstream
PRPH2 downstream;3_prime_UTR
ZNF318
MAD2L1BP synonymous
VEGFA downstream
RCAN2 intronic
RPP40
TFAP2B upstream
TFAP2B downstream
TFAP2B
PKHD1
PKHD1
PKHD1 intronic
PKHD1 intronic
LYRM4 intronic
LRRC1 intronic
MLIP intronic
FAM83B
FAM83B intronic
HCRTR2
GFRAL missense
NRN1
LGSN intronic
EYS intronic
ADGRB3 intronic
LMBRD1
OGFRL1
RIMS1
KCNQ5 intronic
KCNQ5 intronic
KCNQ5 downstream
IRAK1BP1
SH3BGRL2
BCKDHB
FAM46A
UBE3D
SLC35B3
CYB5R4 intronic
CYB5R4
SYNCRIP
HTR1E
ANKRD6 intronic;intronic
ANKRD6 intronic
EPHA7
EPHA7
EPHA7
OFCC1
NDUFAF4 intronic
MMS22L
MMS22L
MMS22L
C7orf43 downstream;downstream;intronic
EPO downstream
SERPINE1 intronic
AP1S1 3_prime_UTR
VGF downstream
COL26A1 intronic
RELN intronic
ATXN7L1 intronic
LINC00998
PPP1R3A
FOXP2
MDFIC
CADPS2 intronic
CADPS2 intronic
UNCX intronic
ZNF800 missense
LEP
TMEM209 downstream
KLF14 upstream
KLF14
KLF14
MKLN1 intronic
PLXNA4
ETV1
DGKI intronic
TTC26 upstream
ETV1 upstream
KDM7A intronic
SLC37A3
DGKB intronic
CNTNAP2 intronic
ZNF777
KCNH2 intronic
SLC4A2 intronic
AGAP3 intronic
PTPRN2 intronic
PTPRN2 intronic
VIPR2
TMEM196 intronic
ITGB8
MAD1L1 intronic
SP4 intronic
IGF2BP3 intronic
NPY
NPY
SKAP2 intronic
SKAP2 intronic
HOXA13
JAZF1 intronic
JAZF1 intronic
CARD11
PDE1C
FKBP9 intronic
POU6F2 intronic
POU6F2 intronic
DDX56 downstream
ZMIZ2 intronic
MYO1G intronic
IGFBP3
ABCA13
VWC2
DDC intronic;intronic
TNRC18 intronic
TNRC18 intronic
FBXL18 intronic
RAC1 intronic
ZNF12 upstream
AUTS2 intronic
AUTS2 intronic
CALN1 intronic
TYW1B intronic
POM121 missense
GTF2I intronic
POM121C intronic
CCDC146
CCDC146
GSAP
MAGI2 intronic
MAGI2 upstream
MAGI2
GET4 intronic
CALCR
CALCR intronic
CALCR upstream
CALCR
COL1A2 intronic
ZKSCAN5 upstream;5_prime_UTR;downstream
YWHAZ upstream
NCALD intronic
DCSTAMP
LRP12
ZFPM2 intronic
XKR6 intronic
CSMD3
CSMD3 intronic
TRPS1 intronic
TRPS1 intronic
EXT1
EXT1 intronic
EXT1 intronic
ENPP2
DEFB134 upstream
NSMCE2 intronic
TRIB1
EFR3A
KCNQ3 intronic
KHDRBS3 intronic
KHDRBS3
KHDRBS3
FAM135B
AC138647.1
AC138647.1
TSNARE1 intronic
SGCZ intronic
NRBP2 3_prime_UTR
EPPK1 upstream
SHARPIN missense;upstream;upstream
SGCZ intronic
SGCZ
TUSC3 intronic
ZDHHC2
LZTS1
GFRA2
SLC25A37 intronic
PNMA2
PTK2B intronic
ELP3 intronic
PNOC
CSMD1 intronic
PURG 3_prime_UTR
NRG1 intronic
NRG1 intronic
UNC5D
KCNU1
KCNU1
CSMD1 intronic
FGFR1 upstream
CSMD1 intronic
CSMD1 intronic
PXDNL
CA8
CLVS1
YTHDF3
MCPH1 intronic
ARMC1
CRH
ARFGEF1 intronic
EYA1
KCNB2
TERF1
UBE2W
HNF4G
HNF4G
ZFHX4
TPD52 intronic
ZBTB10
PAG1
RALYL
RALYL intronic
RMDN1 intronic
MMP16
RUNX1T1
PPP1R3B
PPP1R3B
FAM92A1
FAM92A1
KIAA1429
ESRP1 intronic
TNKS intronic
TEX10 intronic
GRIN3A intronic
PTPRD intronic
ACTL7B
EPB41L4B intronic
MUSK upstream
TNC intronic
PAPPA intronic
TLR4
TLR4
TLR4
TYRP1
BRINP1
BRINP1 downstream
BRINP1
CDK5RAP2
DAB2IP intronic
CRB2
DENND1A intronic
NEK6 intronic
HSPA5 intronic
MAPKAP1 intronic
LMX1B
LMX1B intronic
LMX1B intronic
LMX1B 3_prime_UTR
LMX1B 3_prime_UTR
GOLGA2 intronic
FIBCD1 intronic
MED27 intronic
AK8 intronic
SPACA9 upstream
SPACA9 upstream
OLFM1 3_prime_UTR
EXD3 intronic
NFIB
NFIB
ZDHHC21 intronic
PSIP1 upstream
CCDC171 intronic
BNC2 intronic
BNC2 intronic
SAXO1 intronic
CDKN2B
ELAVL2
ELAVL2
ELAVL2
LINGO2
LINGO2 intronic
LINGO2
LINGO2
LINGO2
ACO1
ACO1
DCAF12 intronic
FAM219A intronic
NPR2
PAX5
PAX5 intronic
ZCCHC7 intronic
KDM4C,RP11-146B14.1,AL513412.1 intronic;intronic;intronic
TRPM3 intronic
TMEM2
TMEM261
GNAQ intronic
PSAT1
PSAT1
TLE4
TLE4 intronic
TLE1
SPATA31D1 synonymous
FRMD3 downstream
RMI1
NTRK2 intronic
ZCCHC6 intronic
PTPRD intronic
SHC3 intronic
GADD45G
PTPRD intronic
NFIL3 upstream
PHF2 intronic
BARX1
ERCC6L2
GABBR2
SEC61B
PAX2
PAX2
PAX2
PAX2
GBF1 intronic
MFSD13A upstream
CNNM2 downstream
SORCS3
SORCS1 intronic
SORCS1 intronic
VTI1A downstream
TCF7L2 intronic
TCF7L2 intronic
TCF7L2 intronic
TDRD1 intronic
SHTN1
CACUL1 intronic
SEC23IP
PLPP4
PLPP4
WDR11
GPR26
LHPP intronic
ZRANB1 intronic
CTBP2 intronic
CTBP2
DOCK1
MGMT
EBF3
TCERG1L intronic
JAKMIP3 intronic
INPP5A intronic
ADGRA1 upstream
FAM188A
RSU1 intronic
CACNB2 intronic
CACNB2 intronic
MALRD1 intronic
ADARB2
NEBL
NEBL intronic
MLLT10 intronic
PIP4K2A intronic
PFKP
PFKP
PFKP
ACBD5 intronic
ARMC4 intronic
NRP1
NRP1
PARD3
PARD3 intronic
PARD3 intronic
AKR1E2
ASAH2B
PRKG1 intronic
PRKG1 intronic
FAM13C intronic
ANK3 intronic
ANK3
TMEM26
NRBF2
JMJD1C intronic
CTNNA3
SEC24C
SEC24C intronic
ADK intronic
ADK intronic
SAMD8 upstream;intronic
C10orf11 intronic
C10orf11 intronic
C10orf11 intronic
KCNMA1 intronic
KCNMA1 intronic
RPS24
CCSER2
GRID1 intronic
LARP4B intronic
GRID1 upstream
PCGF5 3_prime_UTR
KIF11 intronic
SORBS1 intronic
ARHGAP19 intronic
CRTAC1 intronic
LOXL4 missense
DYNC2H1 intronic
MRVI1 intronic
AASDHPPT intronic
GUCY1A2 intronic
CWF19L2 intronic
GALNT18
NCAM1 intronic
TTC12 intronic
ZBTB16 intronic
CADM1
CADM1 intronic
CADM1
SIK3 intronic
CEP164 missense
USP47
TTC36 3_prime_UTR
VPS11 intronic
C2CD2L 5_prime_UTR
NECTIN1
TRIM29
BLID
UBASH3B intronic
C11orf63 intronic
TMEM218
EI24 intronic
KIRREL3 intronic
KIRREL3 intronic
SNX19
NTM intronic
NTM intronic
NTM intronic
OPCML intronic
ARNTL intronic
OPCML intronic
OPCML intronic
IGSF9B
IGSF9B
B3GAT1
BRSK2 3_prime_UTR
PSMA1 intronic
SOX6
KCNJ11 downstream
HPS5 upstream
SLC6A5 3_prime_UTR
NELL1 intronic
TH
ASCL2
PSMD13 upstream;missense
KCNQ1 intronic
BDNF missense
BDNF missense
BDNF intronic
KCNQ1 intronic
METTL15
METTL15
METTL15
METTL15
ARL14EP
MPPED2 intronic
RCN1 upstream
B4GALNT4 intronic
NUP98 intronic
TTC17
HSD17B12
ALKBH3 upstream
SYT13
PHF21A intronic
RAPSN intronic
CELF1 intronic
TRIM48
PLCB3 downstream;synonymous
SLC22A12 intronic
CTSW downstream
PACS1 intronic
PC intronic;downstream
IGHMBP2 intronic
MYEOV
CCND1
ORAOV1
ARAP1 intronic
FAM168A intronic
SYT9 intronic
SERPINH1 upstream
TSKU upstream
LMO1
DLG2 intronic
TRIM66 intronic
RPL27A intronic
RAB38
CHID1 intronic
CHORDC1 intronic
CHORDC1 upstream
FAT3 intronic
SMCO4 3_prime_UTR
CWC15 downstream
ZNF143 intronic
C12orf42
C12orf42 intronic
CHST11 intronic
BTBD11 intronic
ASCL4 upstream
WSCD2
SART3 intronic
MMAB intronic
MVK
TCTN1 downstream;intronic
RPH3A intronic
LHX5
RBM19
MED13L
FBXO21 intronic
KSR2 intronic
SRSF9 upstream;missense
P2RX4 intronic
BCL7A intronic
MLXIP intronic
ZCCHC8 intronic
PITPNM2 intronic
ZNF664 intronic
MMP17 downstream
GALNT9 missense
CHFR upstream
GRIN2B
ATF7IP
LMO3
LMO3
RERGL
RERGL
PLEKHA5
PLEKHA5 intronic
DCP1B
PDE3A intronic
CACNA1C upstream
ETNK1
SOX5
SOX5 intronic
CACNA1C intronic
SOX5 intronic
BCAT1
TEAD4 intronic
FGD4 intronic
SYT10
CPNE8
ABCD2 intronic
ABCD2 intronic
PDZRN4 intronic
PDZRN4
PPHLN1 intronic
CCND2 intronic
TIGAR intronic
PRKAG1 missense
PRKAG1 upstream;3_prime_UTR
FAIM2 3_prime_UTR
FAIM2
POU6F1 missense
KRT8 upstream
PRR13 upstream
CBX5 3_prime_UTR
ITGA7 intronic
PA2G4 upstream;downstream;upstream
GLS2 intronic;3_prime_UTR
NEMP1 upstream;downstream
R3HDM2 missense;upstream
SLC16A7 intronic
SLC16A7
FAM19A2 intronic
USP15 intronic
DYRK2
CPSF6 intronic
MYRFL intronic
RAB21 missense
LIN7A intronic
PPFIA2
TMTC2 intronic
TMTC2
WNK1 intronic
DUSP6
ATP2B1
ATP2B1
CCER1
RAD52 downstream
NEDD1
NEDD1
NEDD1
NEDD1
ANKS1B intronic
ANKS1B intronic
ANKS1B intronic
SLC10A2
DAOA
FAM155A intronic
MYO16 intronic
TEX29 intronic
TEX29
ATP11A 3_prime_UTR
TPTE2
ZMYM2 intronic
GPR12
MTIF3 intronic
FLT3 intronic
FLT3 missense
MTUS2 intronic
UBE2L5P downstream
N4BP2L2
NBEA intronic
NBEA intronic
DCLK1 intronic
FOXO1
FOXO1
DLEU1
WDFY2
WDFY2
OLFM4
OLFM4
OLFM4
OLFM4
OLFM4
PCDH17
PCDH17
DIAPH3
DIAPH3
PCDH20,RP11-310K10.1
PCDH20,RP11-310K10.1
PCDH9
PCDH9
PCDH9
PCDH9 intronic
PCDH9 intronic
DACH1
SLAIN1 upstream
RBM26
RBM26
SPRY2
SLITRK6
SLITRK6
SLITRK6
SLITRK5
GPC5
HS6ST3 intronic
HS6ST3 intronic
RAP2A
STK24
CLYBL 3_prime_UTR
DLK1
RTL1
RTL1
PPP2R5C intronic
MOK intronic
RCOR1 intronic
CKB upstream;upstream
KIF26A intronic
STXBP6
STXBP6
NOVA1
PRKD1
PRKD1
PRKD1 intronic
PRKD1
PRKD1
AKAP6 missense
NPAS3 intronic
SPTSSA
KIAA0391 intronic
FBXO33
FBXO33
LRFN5
LRFN5
MDGA2
MDGA2 intronic
MDGA2 intronic
TMX1 intronic
MAPK1IP1L
KTN1 splice_region
PELI2
SNAPC1
SYT16 intronic
KCNH5
KCNH5
RAB15,CHURC1-FNTB intronic
FUT8 intronic
FUT8
GALNT16 intronic
MAP3K9 intronic
DPF3 intronic
DPF3 intronic
ELMSAN1 intronic
ELMSAN1 upstream
FOS
NRXN3 downstream
NRXN3 intronic
NRXN3 intronic
NRXN3
SEL1L
SEL1L
SEL1L
GALC
GALC intronic
GALC intronic
EML5 intronic
RPS6KA5 intronic
C14orf159 intronic
TRIP11 downstream
UNC79 intronic
PRIMA1 synonymous
VRK1 intronic
C14orf177
BCL11B intronic
ADAMTS17 missense
GABRB3 intronic
GABRG3 intronic
OTUD7A intronic
DPH6 intronic
C15orf41
MEIS2
EXD1 intronic
RTF1 intronic
PLA2G4B,JMJD7-PLA2G4B intronic;intronic;downstream
SQRDL
AC066615.1
AC066615.1
SEMA6D intronic
DMXL2 intronic
TMOD2 intronic
LEO1 upstream
ONECUT1
ONECUT1
UNC13C intronic
UNC13C intronic
CCPG1 intronic
TCF12 intronic
FAM63B intronic
RORA intronic
RORA intronic
RORA intronic
VPS13C intronic
USP3
HACD3 intronic
MEGF11 intronic
DIS3L intronic
MAP2K1 5_prime_UTR
SMAD3
MAP2K5 intronic
SKOR1 upstream
SKOR1 downstream
ADPGK upstream
HCN4 intronic
LOXL1
CYP1A1
HMG20A
LINGO1
RASGRF1
ABHD17C intronic
FSD2
POLG
RHCG
SV2B
SLCO3A1 intronic
MCTP2
ARRDC4
IGF1R intronic
PGPEP1L intronic
LRRC28
SHISA9
PDXDC1 downstream;intronic
C16orf45 intronic
MAPK8IP3 intronic
GPRC5B
GPR139
GPR139 intronic
GPR139 intronic
GP2
GP2
PDILT intronic
NTHL1 intronic
PRKCB intronic
PRKCB intronic
CACNG3 intronic
RBBP6 splice_region
TNRC6A intronic
NTN3 intronic
ZKSCAN2
KCTD5 3_prime_UTR;downstream
GSG1L intronic
SBK1 upstream
SH2B1 missense
TMEM219 upstream
GDPD3 3_prime_UTR
STX1B upstream
CLUAP1 3_prime_UTR
MRPL28 upstream
ADCY9 3_prime_UTR
ADCY9 3_prime_UTR
ADCY9 intronic
PPL missense
CBLN1
ZNF423 intronic
ZNF423 intronic
TOX3 intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO intronic
FTO 3_prime_UTR
IRX3
IRX3
IRX5
GNAO1 3_prime_UTR
CDH8
CDH8
CDH11
CDH5
CDH5
CDH5
RBFOX1 intronic
SMPD3 intronic
RBFOX1 intronic
HAS3 intronic
TERF2
NQO1 3_prime_UTR
COG4 3_prime_UTR;downstream
HYDIN intronic
PHLPP2 missense
DHODH upstream;upstream
PMFBP1
AC004158.1
ZFHX3 intronic
ZFHX3 upstream
ZFHX3
ZFHX3
PSMD7
CHST6 downstream
CNTNAP4
MON1B intronic
CMIP intronic
CDH13
CDH13 upstream
CDH13 intronic
CDH13 intronic
FAM92B
SLC7A5
ACSF3
SPG7 intronic
C16orf72 downstream
C16orf72
GRIN2A
NCOR1 intronic
RAI1 synonymous
RTN4RL1 intronic
NATD1 3_prime_UTR
MAP2K3
SMG6 intronic
TMEM97 downstream;downstream
ABHD15 missense
SSH2 intronic
TMIGD1 upstream
SUZ12 intronic
ASIC2 intronic
ASIC2 intronic
ASIC2 intronic
MYO19 3_prime_UTR
DHRS11 downstream
MRM1
ACACA intronic
MED24 upstream
KRTAP2-3 downstream
KRTAP4-6
ZZEF1 intronic
NBR1 intronic
ETV4
SLC4A1
MAPT intronic
KPNB1 downstream
CDK5RAP3
SKAP1 intronic
SKAP1 intronic
HOXB5 downstream
MINK1 3_prime_UTR;3_prime_UTR;upstream
IGF2BP1
PHOSPHO1
NGFR intronic
ENO3 downstream;downstream
NUP88 intronic
TOM1L1
MMD intronic
ANKFN1 intronic
MSI2 intronic
MSI2 intronic
MSI2 intronic
SRSF1
TRIM37 downstream
CCDC47 intronic
RGS9 upstream
PRKCA intronic
PITPNC1 intronic
PITPNC1 3_prime_UTR
BPTF intronic
KCNJ2
DLG4 intronic
SSTR2
SDK2
SDK2
POLR2A downstream
TRIM47 intronic
TP53 3_prime_UTR
AC104981.1
DNAH2 intronic
C17orf99 intronic
KDM6B synonymous;upstream
TIMP2 intronic
CBX4
CBX4
NPTX1 intronic
NPTX1
RPTOR intronic
BAIAP2 downstream
AATK downstream;intronic
SLC38A10 downstream;downstream
LRRC45 intronic;upstream
SLC16A3 upstream
RCVRN intronic
ADCYAP1
METTL4
METTL4
C18orf8 intronic
HRH4
ZNF521
ZNF521
SS18
SMCHD1 intronic
CDH2 intronic
GAREM1
CCDC178 intronic
ASXL3 intronic
NOL4 intronic
CELF4 intronic
CELF4
CELF4
PIK3C3
PIK3C3 intronic
RIT2
RIT2 intronic
RIT2
SETBP1 intronic
SLC14A2 intronic
IER3IP1
ZBTB7C intronic
ZBTB7C intronic
CTIF intronic
DCC intronic
DCC intronic
RAB27B intronic
TCF4 intronic
TCF4
GRP
PMAIP1
MC4R
MC4R
MC4R
MC4R
MC4R
MC4R missense
MC4R
MC4R
BCL2
BCL2 intronic
CDH7
SOCS6
CBLN2
CBLN2 intronic
SMIM21 downstream
PTPRM
SMIM21
SALL3
SALL3 intronic
MTCL1 missense
ADCYAP1
ADCYAP1
ZNF44
KLF1 missense;upstream
IER2
ZSWIM4 intronic
MAST3 upstream;intronic
JUND upstream
PGPEP1 intronic
PGPEP1 downstream
GDF15 downstream
ELL upstream
KLHL26 intronic
KLF16 upstream
CRTC1 intronic
CRTC1 intronic
NCAN intronic
HAPLN4 intronic;downstream
CSNK1G2 intronic
SF3A2 intronic;upstream
CCNE1
URI1
ZNF536
ZNF536 intronic
ZNF536 intronic
GNA11 intronic
ZNF507
ANKRD27 intronic
MIER2 intronic
CEBPA
PEPD intronic
PEPD
NFIC upstream
KCTD15 downstream
ZBTB7A intronic
CYP2A6
POU2F2 splice_region
UBXN6 downstream
APOE missense;downstream
APOE downstream;upstream
EML2 intronic
GIPR intronic
GIPR intronic
ZC3H4 downstream
ZC3H4 3_prime_UTR
PPFIA3 upstream
MED25 intronic
SYT3 synonymous
SIGLEC9 downstream
IGLON5 intronic
PTPRS intronic
SNAP25 intronic
BTBD3
SPTLC3
NSFL1C
MACROD2 intronic
MACROD2 intronic
KIF16B intronic
PCSK2
PCSK2
PCSK2 intronic
ZNF133 missense
SLC24A3 intronic
KIZ
STK35 intronic
NKX2-2
NKX2-2
FOXA2
ENTPD6 missense
GINS1 intronic
FAM182B
PTPRA intronic
COX4I2 downstream
DUSP15 upstream
HCK upstream
RALY intronic
SOGA1 intronic
VSTM2L intronic
MAFB
ADRA1D intronic
SRSF6
RIMS4 intronic
YWHAB upstream;3_prime_UTR
CDH22 intronic
SULF2 missense
ARFGEF2
SALL4 downstream
TSHZ2
TSHZ2 intronic
TSHZ2 intronic
DOK5
CBLN4
CBLN4
MC3R
CTSZ downstream;synonymous
PHACTR3 intronic
DIDO1 intronic
KCNQ2 downstream
ZBTB46 downstream;intronic
DNAJC5 intronic
TCEA2 upstream
BMP2
PLCB1 intronic
PLCB1 intronic
PAK5 downstream
ANKEF1
NRIP1 downstream
USP25
USP25
MRPL39
MRPL39
TIAM1 intronic
C21orf62
OLIG2
DYRK1A 3_prime_UTR
KCNJ6 intronic
ETS2
ETS2
BRWD1 intronic
DSCAM intronic
BACE2 intronic
SLC37A1 intronic
CBS
ADARB1
ADARB1 intronic
ADARB1 3_prime_UTR
PRMT2
BCL2L13 intronic
BID intronic
COMT synonymous
YPEL1 intronic
GRK3 3_prime_UTR
TPST2 3_prime_UTR
CRYBA4
CRYBA4
MN1
OSBP2 intronic
PRR14L missense
CACNG2 downstream
PLA2G6 intronic
CBX6
SYNGR1 intronic
TNRC6B intronic
TEF
CYB5R3 intronic
TTC38 upstream;upstream
FAM19A5
FAM19A5
FAM19A5 intronic
FAM19A5
PLXNB2 missense
Gene for sentinel variant effect MANTRA Log10 Bayes Factor for Across-ancestry Association
9.78
NTNG1 11.61
NTNG1 9.56
CASZ1 5.66
4.11
CELSR2 2.57
GNAI3 8.08
GNAI3;GNAT2 31.52
7.10
6.47
MTOR 10.63
FAM212B 15.22
8.24
NRAS 7.94
6.60
NPPB 6.61
TBX15 6.83
TBX15 6.85
RP11-235D19.4 8.57
C1orf56 15.96
AQP10;ATP8B2 7.40
SHE
KCNN3 6.16
KCNN3 8.36
ZBTB7B;DCST2 14.85
ADAM15 4.75
ASH1L 5.94
GON4L 13.93
LMNA;MEX3A 24.28
13.20
DDI2 7.77
SLC35E2B 16.31
ATP13A2 8.61
PRRC2C 10.37
RC3H1 9.40
MRPS14 7.30
11.57
2.87
2.83
127.85
7.65
82.14
SEC16B 136.24
SMG7 3.30
4.09
EDEM3 9.14
BRINP3 13.29
4.03
CFAP74;CALML6;TMEM52 13.14
TROVE2 5.78
4.39
11.74
MINOS1 5.43
CRB1 12.64
7.86
PTPRC 6.11
NAV1 34.13
TIMM17A 5.05
PTPN7;ARL8A 11.55
SYT2 2.08
11.90
11.63
6.35
9.09
NFASC 1.99
6.54
8.46
SYT14 8.79
RAP1GAP 3.18
HSPG2 2.74
12.91
ZC3H11B 17.91
4.03
HLX 4.50
13.38
PLD5 4.79
9.57
SDCCAG8 2.44
AKT3 6.87
PANK4 12.63
6.39
PUM1 4.61
ADGRB2 9.94
KIAA1522 9.71
PHC2 7.49
CSMD2 5.73
CSMD2 9.30
5.41
4.75
7.58
MACF1 15.50
BMP8A 0.31
10.89
RLF 5.64
7.13
4.86
AKR1A1 8.48
7.62
TAL1 23.00
AGBL4 20.54
8.41
SSBP3 9.56
SSBP3 1.44
PLPP3 8.61
DAB1 5.21
NFIA 3.78
NFIA 4.19
PATJ 8.67
PATJ 27.51
5.57
LEPR 11.58
PDE4B 8.07
THAP3;PHF13 8.61
4.82
DEPDC1 3.84
NEGR1 4.89
NEGR1 53.56
47.85
TNNI3K;FPGT-TNNI3K 26.13
ERICH3 10.14
CAMTA1 6.22
AK5 11.03
39.24
5.51
8.27
ADGRL2 12.20
TTLL7 6.23
DNASE2B 6.63
DDAH1 5.67
6.34
0.17
EVI5 11.59
BCAR3 4.38
9.98
7.75
29.26
16.61
DPYD 4.35
6.35
2.65
CLSTN1 3.90
6.46
11.32
15.22
MAP4K4 8.65
8.10
15.39
9.44
FHL2 9.35
NCK2 4.31
PSD4 2.90
PSD4 5.20
PAX8 1.55
BIN1
LIMS2 6.90
MCM6 10.64
5.93
THSD7B 3.82
4.85
LRP1B 6.68
LRP1B 7.23
LRP1B 6.05
6.85
ARHGAP15 14.56
ZEB2 2.87
10.55
17.14
9.26
NBAS 4.73
GALNT13 7.18
KCNJ3 3.20
4.05
4.07
2.57
4.68
4.69
DAPL1 6.32
RBMS1 5.43
SLC4A10 4.17
FIGN 5.49
6.75
7.87
COBLL1 12.32
7.50
SCN1A 9.00
STK39 4.98
ABCB11
5.72
DYNC1I2 11.01
AC013461.1 5.36
5.02
17.14
6.54
TTN 5.55
ZNF385B 4.34
22.63
23.82
PDE1A 6.02
2.21
CALCRL 10.85
4.31
5.53
TMEFF2 4.95
6.29
PLCL1 8.85
5.60
5.67
CYP20A1 7.58
15.70
INO80D 9.32
ZDBF2 7.57
KLF7 8.43
7.76
12.43
8.65
ERBB4 5.88
ERBB4 7.25
23.64
VWC2L 6.27
SMARCAL1 7.10
VIL1 9.48
12.24
MYT1L 4.10
4.16
EPHA4 6.06
SPHKAP 8.49
SPHKAP 11.35
0.15
TRIP12 13.56
6.30
2.94
AGAP1 8.76
AGAP1 10.30
2.37
SH3YL1 7.22
6.63
ATG4B 9.03
ADCY3 83.70
EFR3B 29.30
EFR3B 24.46
KCNK3 16.21
GCKR 6.68
ACP1;FAM150B 7.58
BRE 2.60
PPP1CB 10.32
ALK 3.23
7.27
9.31
5.89
CRIM1 3.22
FEZ2 6.13
VIT 4.17
3.30
11.46
SLC8A1 3.32
7.17
130.72
129.56
MTA3 5.32
CAMKMT 6.19
8.43
4.43
1.73
STON1-GTF2A1L;LHCGR 9.36
NRXN1 14.52
NRXN1 9.98
NRXN1 5.97
NRXN1 3.81
NRXN1 6.07
6.66
3.45
5.01
7.05
5.18
RTN4 16.26
25.45
CCDC85A 7.37
SOX11 4.18
19.13
34.64
12.53
24.01
7.40
9.17
16.18
BCL11A 9.29
6.31
145.30
10.58
146.25
16.67
AAK1 11.00
AAK1 5.89
6.71
CTNNA2 9.21
6.81
CTNNA2 3.50
CTNNA2 3.46
CTNNA2 5.14
2.83
6.87
RNF103-CHMP3 19.32
FAM178B 4.74
ZAP70 7.71
REV1 4.65
SENP7 6.34
TRMT10C 4.14
5.21
ATP2B2 5.07
9.65
6.71
BBX 9.90
HHLA2 12.46
MYH15 8.61
4.50
HRH1 5.54
BOC 4.02
ZBTB20 10.09
ZBTB20 4.94
GAP43 6.60
LSAMP 6.53
VGLL4 6.85
VGLL4
7.76
6.10
3.18
3.60
NR1I2 7.65
NDUFB4 4.68
4.15
PPARG 24.93
ADCY5 6.81
PPARG 23.70
HACD2 8.57
CNTN6 5.47
HEG1 7.23
SNX4 3.62
DNAJB8 6.77
3.86
IQSEC1 8.73
CPNE4 3.85
CPNE4 25.97
CPNE4 10.06
CPNE4 7.18
CPNE4 8.38
CPNE4 9.64
NUP210 6.46
EPHB1 7.59
12.67
STAG1 15.88
MRAS 8.83
CLSTN2 3.59
1.66
ZBTB38 1.49
25.82
RASA2
TFDP2 4.28
2.97
ZIC4 3.11
2.57
5.65
7.11
ARHGEF26 15.36
4.98
9.88
ANKRD28 8.46
CCNL1 12.65
VEPH1
RSRC1 10.86
RSRC1
8.83
10.96
1.00
6.36
PLCL2 7.44
SLC2A2 14.39
TNIK 10.41
NLGN1 18.55
NLGN1 2.52
NLGN1 3.54
NLGN1 8.20
6.36
TBL1XR1 7.22
KCNMB2;RP11-385J1.3 5.62
KCNMB3 5.29
4.79
8.59
4.77
8.15
YEATS2 9.26
ECE2;CAMK2N2 13.48
ETV5 48.87
3.05
XXYLT1 7.57
UBXN7 9.34
DLG1 4.79
9.36
6.26
CNTN4 5.68
1.22
2.84
26.07
CNTN4 4.39
-0.49
7.71
10.78
ARPP21 6.45
ULK4 10.89
14.91
14.97
KLHL40 4.92
3.58
8.54
11.29
7.27
SMARCC1 20.77
MST1R 48.24
DOCK3 12.92
7.09
ITIH4 23.51
ITIH4 23.01
CACNA1D 4.16
CACNA1D 11.59
CACNA1D 5.70
CACNA2D3 7.25
FHIT 4.35
FHIT
FHIT 3.84
22.65
5.05
PTPRG 3.77
PTPRG 4.90
CADPS 10.18
CADPS 13.92
7.68
6.48
3.36
6.82
0.78
LRIG1 10.26
MITF 4.89
MITF 7.49
6.46
8.65
FOXP1 3.44
FOXP1 7.06
6.24
ROBO2 7.45
6.58
ROBO1 7.46
6.12
5.30
12.24
GBE1 8.30
12.25
CADM2 17.08
CADM2 17.08
10.88
CGGBP1 13.25
4.75
13.28
27.96
SETD5 8.98
0.35
BANK1 24.96
SLC39A8 4.45
SLC39A8 47.32
SLC9B1 2.46
PITX2 3.61
8.60
ALPK1 10.61
7.03
NDST3 4.50
SEC24D 1.03
14.43
14.21
3.49
4.45
9.38
8.06
2.58
24.01
4.34
MAML3 8.66
MAML3 12.53
INPP4B 5.90
GAB1 4.96
9.87
7.98
6.09
SLC10A7 9.45
4.16
5.76
2.41
8.82
FSTL5 5.42
FSTL5 6.31
5.10
MARCH1 3.78
Mar-01 5.29
LDB2 6.86
LDB2 5.88
11.33
GALNTL6 4.97
GALNTL6 6.52
5.50
16.49
6.36
NELFA 6.11
12.73
SLIT2 9.35
ANAPC4 38.19
FAM193A 8.24
STIM2 7.39
9.75
3.86
7.18
9.64
4.56
6.39
9.72
5.10
4.53
5.36
10.04
3.91
BEND4 4.10
5.40
KCTD8 9.91
97.96
2.32
SPATA18 3.39
5.77
RP11-231C18.3 3.59
7.88
12.05
4.97
6.31
8.28
3.91
10.56
6.29
3.73
5.98
7.91
ART3 6.98
CCNI 1.46
11.37
FGF5 6.96
AFF1 4.02
ABCG2 3.17
ABCG2 11.28
PPM1K 5.49
FAM13A 6.77
GRID2 6.87
7.97
BMPR1B 6.71
UNC5C 5.66
5.10
TSPAN5 5.23
ADH1B 10.15
LAMTOR3
8.24
9.38
8.68
EFNA5 5.70
FBXL17 12.70
FBXL17 5.21
3.97
NREP 7.22
MCC 8.34
YTHDC2
7.14
10.04
TNFAIP8 4.89
8.58
8.75
3.63
SNX2 2.96
16.21
CEP120 9.69
3.82
C5orf56 3.06
JADE2 18.54
SPOCK1 5.10
CDC25C 8.13
14.77
HBEGF 11.60
8.42
4.84
NR3C1 4.22
8.99
HTR4 5.31
PPARGC1B 2.15
1.96
8.59
GRIA1 6.19
FAM114A2 11.83
16.27
2.90
5.87
EBF1 1.69
EBF1 7.84
3.49
6.85
6.27
8.95
9.07
6.41
TENM2
TENM2 6.67
TENM2 4.43
TENM2 5.67
WWC1 6.54
RARS
SLIT3 5.06
SLIT3 7.47
SLIT3 7.30
5.34
RANBP17 22.38
RANBP17 23.21
FGF18 7.32
4.49
4.86
FGFR4 6.25
ADAMTS2 3.57
MAML1 3.32
2.92
8.00
3.86
8.25
5.56
ZNF131 15.56
3.76
FGF10 3.06
4.52
7.16
PDE4D 3.61
ZSWIM6 10.46
13.20
8.77
12.70
CWC27 12.80
MAST4 12.43
7.85
0.63
ARHGEF28 5.97
ANKRD31 23.73
ADCY2 2.59
COL4A3BP 35.78
POC5 46.73
6.47
PDE8B 5.43
AP3B1 7.61
SCAMP1 4.40
C5orf49 6.05
4.30
SSBP2 15.49
5.49
9.82
30.84
41.60
14.75
ADGRV1 8.41
6.82
6.90
MCTP1 7.05
14.07
25.95
17.99
1.08
CAST 10.07
2.71
9.82
ASCC3 9.77
11.36
LIN28B 3.59
GCNT2 8.46
PDSS2 4.12
FOXO3 26.55
FOXO3 26.67
5.61
5.17
AK9 1.17
4.84
6.31
5.69
MAN1A1 6.86
12.99
HIVEP1 18.13
TRDN 6.52
NKAIN2 11.54
12.20
RSPO3 5.62
4.87
PHACTR1 2.69
LAMA2 3.63
L3MBTL3 8.93
SMLR1 2.50
MED23 6.93
PHACTR1 8.43
7.05
5.13
5.37
HIVEP2 10.20
PLAGL1
7.46
SYNE1 3.73
RGS17 11.17
OPRM1 9.84
OPRM1 5.43
5.37
2.34
6.13
SLC22A3 10.09
PARK2 21.94
QKI 4.06
11.70
10.43
ATXN1 8.22
4.01
5.34
8.40
8.62
5.32
7.22
5.79
E2F3 11.31
CDKAL1
CDKAL1 13.17
9.79
6.80
6.12
8.97
12.90
ABT1 1.15
PGBD1 8.57
GABBR1 4.60
MRPS18B 13.73
HLA-C 2.94
MICB 5.76
PRRC2A 22.39
DXO;STK19;SKIV2L 14.67
HLA-DRB1
15.16
IP6K3 6.15
MLN 12.85
7.17
HMGA1 10.07
HMGA1;C6orf1 26.22
28.82
C6orf106 39.34
ANKS1A 5.86
ANKS1A 11.47
GLP1R 11.29
3.55
4.60
6.54
LRFN2 37.54
7.09
PGC 9.95
UBR2;PRPH2 6.34
3.52
MAD2L1BP 10.32
VEGFA 11.88
RCAN2 8.03
3.96
TFAP2B 58.01
TFAP2B 68.88
52.72
11.05
7.75
PKHD1 3.82
PKHD1 12.51
FARS2 4.64
LRRC1 4.51
MLIP 5.07
4.24
FAM83B 2.88
9.29
GFRAL 6.34
6.21
LGSN 6.80
EYS 4.06
ADGRB3 3.09
5.72
3.13
7.44
KCNQ5 5.76
KCNQ5 7.25
KCNQ5 8.62
5.17
4.58
4.88
5.04
8.92
4.04
CYB5R4 2.57
4.65
4.08
5.47
ANKRD6;LYRM2 6.33
LYRM2 8.74
7.59
8.41
4.51
8.72
KLHL32 9.75
14.54
1.56
12.99
GAL3ST4;LAMTOR4;C7orf43 9.74
EPO 8.64
SERPINE1 5.54
AP1S1 9.11
AP1S1
COL26A1 0.25
RELN 27.75
ATXN7L1 5.43
16.66
17.64
14.87
7.76
CADPS2 14.41
CADPS2 4.81
UNCX 9.85
ZNF800 2.84
6.85
TMEM209 4.60
KLF14 5.91
16.52
12.93
MKLN1 4.02
7.05
2.93
DGKI 12.53
TTC26 11.70
ETV1 4.88
KDM7A 8.52
3.51
DGKB 6.95
CNTNAP2 5.35
2.95
KCNH2 11.93
SLC4A2 2.95
AGAP3 6.83
PTPRN2 2.78
PTPRN2 6.46
3.02
TMEM196 8.36
5.85
MAD1L1 10.76
SP4 9.05
IGF2BP3 4.42
6.34
6.97
SKAP2 13.38
SKAP2 2.52
6.84
JAZF1 16.29
JAZF1 14.75
6.58
11.88
FKBP9 8.50
POU6F2 8.84
POU6F2 10.27
DDX56 3.24
ZMIZ2 16.58
MYO1G 3.77
4.79
3.04
9.05
FIGNL1;DDC 8.89
TNRC18 4.66
TNRC18 3.95
FBXL18 6.18
RAC1 5.47
ZNF12 5.25
AUTS2 7.83
AUTS2 9.35
CALN1 7.52
TYW1B 4.49
POM121 5.89
GTF2I 13.62
POM121C 36.62
31.89
23.04
9.43
MAGI2 15.29
MAGI2 7.66
4.94
GET4 4.11
5.29
CALCR 11.79
CALCR 6.16
4.94
COL1A2 4.17
ZNF394;ZKSCAN5;ZNF789 13.48
YWHAZ 6.50
NCALD 5.51
8.37
6.64
ZFPM2 4.73
XKR6 27.50
8.11
CSMD3 6.47
TRPS1 9.60
TRPS1 21.50
5.73
EXT1 9.88
EXT1 4.37
4.89
DEFB134 13.30
NSMCE2 2.68
7.83
10.09
KCNQ3 3.65
KHDRBS3 2.52
2.76
6.26
8.25
1.50
8.92
TSNARE1 8.45
SGCZ 14.58
NRBP2 7.75
EPPK1 4.80
SHARPIN;MAF1;WDR97 5.85
SGCZ 7.12
5.13
TUSC3 7.85
9.17
10.03
5.51
SLC25A37 10.76
5.81
PTK2B 8.41
ELP3 10.55
8.07
CSMD1 6.49
PURG 14.06
NRG1 9.75
NRG1 4.87
7.47
4.36
1.24
CSMD1 8.63
FGFR1 5.34
CSMD1 6.40
CSMD1 10.08
6.64
7.56
9.01
8.72
MCPH1 4.70
4.02
10.36
ARFGEF1 6.22
2.16
23.77
6.89
8.34
12.47
22.04
22.75
TPD52 6.46
7.60
4.80
12.17
RALYL 12.94
RMDN1 11.57
7.15
5.60
13.25
0.35
4.33
5.38
13.16
ESRP1 9.05
TNKS 13.86
TEX10 15.38
GRIN3A 9.37
PTPRD 4.67
2.98
EPB41L4B 8.43
MUSK 3.46
TNC 9.62
PAPPA 6.13
15.93
4.65
6.26
11.74
2.56
BRINP1 7.50
4.81
5.74
DAB2IP 4.53
11.16
DENND1A 6.40
NEK6 7.43
GAPVD1 4.81
MAPKAP1 0.66
4.06
LMX1B 4.87
LMX1B 15.72
LMX1B 14.23
LMX1B 16.49
GOLGA2 11.21
FIBCD1 13.94
MED27 4.32
AK8 4.72
AK8
AK8 7.29
OLFM1 7.57
EXD3 11.86
6.45
10.66
ZDHHC21 5.16
PSIP1 10.34
CCDC171 26.25
BNC2 7.21
BNC2 13.19
SAXO1 6.43
6.45
10.44
9.72
3.78
15.65
LINGO2 40.16
9.30
6.73
7.59
4.29
6.92
DCAF12 12.48
FAM219A 5.57
6.63
3.63
PAX5 10.37
ZCCHC7 13.84
KDM4C;RP11-146B14.1;AL513412.1 10.58
TRPM3 14.70
2.29
6.57
GNAQ 9.55
10.57
3.68
5.41
TLE4 5.91
7.94
SPATA31D1 4.09
FRMD3 5.95
7.38
NTRK2 7.97
ZCCHC6 11.39
PTPRD 4.84
SHC3 3.52
10.40
PTPRD 7.00
NFIL3 9.86
PHF2 12.03
9.43
6.22
5.97
5.81
6.49
21.25
4.55
17.78
GBF1 10.05
MFSD13A 9.25
CNNM2 18.47
6.45
SORCS1 3.53
SORCS1 3.46
VTI1A 5.45
TCF7L2 37.80
TCF7L2 33.20
TCF7L2 4.32
TDRD1 5.52
12.25
CACUL1 8.74
4.64
9.05
10.83
9.31
LHPP 2.18
ZRANB1 18.00
CTBP2 1.07
3.25
5.05
3.06
7.23
TCERG1L 6.04
JAKMIP3 11.13
INPP5A 5.95
ADGRA1 6.77
6.70
RSU1 11.40
CACNB2 7.70
CACNB2 12.51
MALRD1 4.51
3.09
6.99
NEBL 6.87
MLLT10 27.99
PIP4K2A 3.83
8.77
11.12
ACBD5 8.50
ARMC4 3.61
7.72
8.13
5.49
PARD3 6.30
PARD3 6.55
7.59
4.76
PRKG1 3.67
PRKG1 11.52
FAM13C 3.95
ANK3 7.65
5.24
7.37
8.32
JMJD1C 11.39
6.12
2.48
SEC24C 7.90
ADK 9.45
ADK 6.57
DUSP13;SAMD8 4.72
C10orf11 6.17
C10orf11 5.76
C10orf11 11.34
KCNMA1 3.78
KCNMA1 2.77
4.13
4.97
GRID1 14.32
LARP4B 5.41
GRID1 17.89
PCGF5 7.15
KIF11 4.42
SORBS1 4.86
ARHGAP19 4.86
CRTAC1 19.66
LOXL4 12.49
DYNC2H1 5.97
MRVI1 3.77
KBTBD3 5.00
GUCY1A2 8.37
CWF19L2 1.77
3.02
NCAM1 6.02
TTC12 12.42
ZBTB16 7.93
17.99
CADM1 5.19
5.51
SIK3 9.14
CEP164 4.85
10.04
KMT2A 8.03
VPS11 9.63
DPAGT1 5.94
5.07
8.78
12.04
UBASH3B 9.44
C11orf63 5.75
3.92
EI24 4.60
KIRREL3 5.56
KIRREL3 3.78
13.35
NTM 9.95
NTM 8.96
NTM 8.83
OPCML 11.89
ARNTL 11.97
OPCML 8.66
OPCML 3.10
12.01
0.21
11.98
BRSK2 4.36
PSMA1 4.02
5.63
KCNJ11 9.06
HPS5 5.38
SLC6A5 3.23
NELL1 6.35
12.19
SIRT3;PSMD13 2.95
KCNQ1 8.97
BDNF 77.99
BDNF 77.99
BDNF 45.72
KCNQ1 29.76
2.22
7.97
2.08
9.08
16.01
MPPED2 6.38
PAX6 2.88
B4GALNT4 10.08
NUP98 1.72
4.96
22.94
ALKBH3 8.83
11.25
PHF21A 12.98
RAPSN 6.19
CELF1 31.16
4.22
BAD;PLCB3 12.56
SLC22A12 8.14
FIBP 18.99
PACS1 7.74
PC;LRFN4 3.09
IGHMBP2 6.53
9.26
17.35
12.59
ARAP1 7.93
FAM168A 2.82
SYT9 5.78
SERPINH1 1.49
TSKU 10.75
5.67
DLG2 13.19
TRIM66 1.49
TRIM66 24.50
1.67
CHID1 13.25
CHORDC1 6.74
CHORDC1 0.82
FAT3 5.74
SMCO4 7.20
CWC15 5.23
ZNF143 4.82
4.76
C12orf42 20.27
CHST11 3.97
BTBD11 6.23
ASCL4 7.60
13.80
SART3 3.10
MMAB 9.82
7.84
HVCN1;TCTN1 11.89
RPH3A 10.44
7.51
9.46
3.82
FBXO21 5.67
KSR2 4.90
DYNLL1;SRSF9 7.93
P2RX4 9.21
BCL7A 13.67
MLXIP 15.54
ZCCHC8 26.11
PITPNM2 8.52
FAM101A 9.64
MMP17 4.10
GALNT9 4.60
CHFR 7.52
5.53
9.02
5.61
9.44
6.26
7.46
5.55
PLEKHA5 6.12
3.26
PDE3A 4.49
CACNA1C 10.78
3.55
5.80
SOX5 6.76
CACNA1C 4.71
SOX5 9.67
5.73
TEAD4 4.09
FGD4 5.25
12.60
6.45
ABCD2 0.22
ABCD2 5.26
PDZRN4 18.98
8.65
PPHLN1 3.31
CCND2 7.36
TIGAR 4.52
PRKAG1 11.94
PRKAG1;KMT2D 6.39
FAIM2 77.29
0.54
POU6F1 5.01
KRT8 5.93
PRR13 6.92
CBX5 9.32
ITGA7 7.25
ZC3H10;PA2G4;RPL41 16.45
GLS2;SPRYD4 6.59
MYO1A;NEMP1 4.53
R3HDM2;STAC3 9.25
SLC16A7 4.22
6.73
FAM19A2 5.48
FAM19A2
6.69
CPSF6 8.57
MYRFL 3.43
RAB21 10.61
LIN7A 4.87
6.65
TMTC2
6.07
WNK1 27.16
15.53
10.49
5.85
7.46
RAD52 2.21
6.79
2.91
9.34
5.64
ANKS1B 3.62
ANKS1B 5.16
ANKS1B 13.14
7.24
4.38
FAM155A 4.87
MYO16 3.98
TEX29 12.31
14.30
ATP11A 7.12
3.27
ZMYM2 11.88
4.14
MTIF3 18.09
FLT3 11.86
FLT3 8.89
MTUS2 6.54
UBE2L5P 5.75
21.16
NBEA 3.77
NBEA 7.55
DCLK1 3.70
12.43
3.67
9.17
1.22
3.82
6.99
47.50
47.87
5.78
10.50
7.35
18.82
16.50
5.58
4.50
2.48
5.82
8.20
16.22
PCDH9 3.29
PCDH9 7.72
9.46
SLAIN1 5.21
20.15
3.35
3.98
4.56
9.54
6.35
2.67
4.07
HS6ST3 8.98
HS6ST3 9.62
3.82
7.70
CLYBL 4.52
7.71
22.53
5.37
PPP2R5C 4.86
MOK 5.00
TRAF3 24.31
CKB;TRMT61A 14.89
KIF26A 6.69
13.43
29.97
2.55
23.40
21.56
PRKD1 6.17
12.60
8.42
AKAP6 32.71
NPAS3 5.27
6.38
KIAA0391 7.11
6.20
10.46
3.77
7.88
23.40
MDGA2 6.15
MDGA2 7.34
TMX1 5.01
4.55
KTN1 6.24
3.87
12.56
SYT16 4.05
6.47
5.88
CHURC1-FNTB 7.13
FUT8 5.44
6.58
GALNT16 4.17
MAP3K9 4.36
DPF3 6.12
DPF3 5.69
ELMSAN1 1.90
ELMSAN1 3.03
4.36
NRXN3 10.79
NRXN3 0.78
NRXN3
1.92
4.21
7.94
4.79
10.40
GALC 7.49
GALC 1.31
EML5 4.07
RPS6KA5 14.63
C14orf159 9.52
TRIP11 3.74
UNC79 24.49
PRIMA1 24.51
VRK1 6.43
7.68
BCL11B 14.05
ADAMTS17 6.84
GABRB3 10.33
GABRG3 5.21
OTUD7A 6.13
DPH6 6.26
8.41
8.08
EXD1 7.20
RTF1
JMJD7-PLA2G4B;PLA2G4B;JMJD7 9.89
10.71
6.11
2.39
SEMA6D 10.08
DMXL2 13.04
TMOD2 1.77
LEO1 13.00
11.07
12.28
UNC13C 5.58
UNC13C 6.09
CCPG1 3.82
ZNF280D 7.78
FAM63B 9.37
RORA 8.62
RORA 4.98
RORA 6.92
VPS13C 11.22
7.95
HACD3 3.25
MEGF11 6.36
MEGF11 7.78
MAP2K1 7.41
8.00
MAP2K5 46.62
SKOR1
SKOR1 -0.04
ADPGK 20.12
HCN4 9.68
7.51
9.38
2.90
12.05
11.12
ABHD17C 12.64
8.42
0.30
7.82
6.46
SLCO3A1 7.76
13.77
7.89
IGF1R 6.99
PGPEP1L 7.54
3.08
2.17
NTAN1;PDXDC1 5.62
C16orf45 2.81
MAPK8IP3 10.06
15.60
44.30
GPR139 18.14
GPR139 17.60
22.77
23.50
PDILT 17.22
NTHL1 11.90
PRKCB 3.21
PRKCB 4.74
CACNG3 8.76
RBBP6 9.62
TNRC6A 8.09
TBC1D24 5.25
3.29
KCTD5;PRSS27 6.34
GSG1L 5.44
SBK1 24.07
SH2B1 50.02
TMEM219 33.77
MAPK3 38.29
STX1B 28.72
CLUAP1 12.92
AXIN1 13.26
ADCY9 50.43
ADCY9 50.43
ADCY9 4.87
PPL 8.83
10.54
ZNF423 5.72
ZNF423 6.27
TOX3 4.62
FTO 9.18
FTO 9.18
FTO 412.71
FTO 494.71
FTO 23.85
FTO 494.71
FTO 349.51
FTO 5.31
FTO 23.02
FTO 4.20
FTO 297.50
FTO 222.10
FTO 416.54
FTO 333.40
FTO 410.02
FTO 13.38
FTO 18.02
FTO 19.08
FTO 207.00
FTO 422.13
FTO 23.62
FTO 1.75
FTO 3.60
FTO 5.14
9.98
5.38
6.35
GNAO1 7.62
7.03
7.49
5.35
8.44
3.66
4.52
RBFOX1 6.96
SMPD3 9.35
RBFOX1 4.80
HAS3 6.32
7.06
NFAT5 29.36
COG4;FUK 20.96
HYDIN 0.56
PHLPP2 5.10
DHODH;PKD1L3 12.15
7.50
12.76
ZFHX3
ZFHX3 10.71
4.68
5.04
CHST6 3.38
4.84
MON1B 7.17
CMIP 8.63
8.67
CDH13 6.02
CDH13 8.67
CDH13 4.53
6.03
4.47
5.37
ANKRD11 2.21
C16orf72 8.60
8.15
8.67
NCOR1 12.43
RAI1
RTN4RL1 19.44
NATD1 10.31
21.93
SMG6 11.97
IFT20;TMEM97 4.83
ABHD15 3.24
SSH2 9.39
TMIGD1 -0.08
SUZ12 4.56
ASIC2 11.40
ASIC2 2.78
ASIC2 3.56
MYO19
GGNBP2 25.65
8.49
ACACA 11.26
THRA 5.75
KRTAP2-3 10.06
10.15
ZZEF1 6.19
NBR1 6.49
6.66
10.26
MAPT 11.34
KPNB1 6.65
11.76
SKAP1 25.37
SKAP1 4.02
HOXB6 12.40
CHRNE;MINK1;C17orf107
28.93
6.14
NGFR 6.81
SPAG7;ENO3
NUP88 6.81
6.54
MMD 8.49
ANKFN1 3.91
MSI2 5.06
MSI2 5.28
MSI2 4.85
4.71
TRIM37 3.28
CCDC47 9.03
RGS9 3.62
PRKCA 5.61
PITPNC1 7.15
PITPNC1 5.31
BPTF 14.48
4.81
DLG4 8.00
6.58
6.77
4.09
POLR2A
TRIM47 7.33
TP53 6.71
8.93
DNAH2 5.79
C17orf99 2.63
KDM6B;TMEM88 7.46
TIMP2 5.51
5.12
3.82
NPTX1 7.18
6.58
RPTOR 34.70
BAIAP2 15.38
BAIAP2;AATK 17.44
SLC38A10;C17orf89 5.06
LRRC45;STRA13 2.47
SLC16A3
RCVRN 7.84
7.03
19.04
5.61
C18orf8 24.83
8.52
6.89
5.47
5.98
SMCHD1 10.39
CDH2 3.84
4.64
CCDC178 5.73
ASXL3 13.86
NOL4 3.09
CELF4 3.11
5.82
5.40
4.71
PIK3C3 13.51
7.70
RIT2 6.24
8.74
SETBP1 8.90
SLC14A2 6.45
6.88
ZBTB7C 3.96
ZBTB7C 2.02
ZBTB7C 12.68
DCC 7.35
DCC 3.44
RAB27B 13.37
TCF4 0.49
7.09
17.23
18.41
164.98
162.58
15.57
76.45
65.67
MC4R
57.80
1.29
7.54
BCL2 9.04
15.15
2.69
11.43
CBLN2 2.45
SMIM21 3.28
10.87
6.73
5.03
SALL3 6.78
MTCL1 2.49
8.02
6.47
2.56
KLF1;DNASE2 6.69
3.55
ZSWIM4 5.34
IL12RB1;MAST3 14.34
JUND 8.72
PGPEP1 22.43
PGPEP1 18.00
GDF15 8.92
ELL 8.56
KLHL26
KLF16 10.99
CRTC1 28.42
CRTC1 12.72
NCAN 6.62
HAPLN4;TM6SF2 15.07
CSNK1G2 9.18
SF3A2;AMH 14.07
21.88
7.63
1.56
ZNF536 8.02
ZNF536 12.39
GNA11 5.47
7.68
ANKRD27 2.51
MIER2 7.05
3.12
PEPD 8.01
5.38
NFIC 4.81
KCTD15 16.48
ZBTB7A 13.91
5.18
POU2F2 5.21
CHAF1A 4.32
APOE;TOMM40 21.12
APOE;APOC1 1.24
EML2 4.55
GIPR 53.25
GIPR 53.25
ZC3H4 58.68
ZC3H4 60.90
PPFIA3 7.88
MED25 5.91
SYT3 10.53
SIGLEC9 5.56
IGLON5 8.63
PTPRS 4.71
SNAP25 4.85
7.50
6.72
6.95
MACROD2 3.80
MACROD2 13.47
KIF16B 7.34
14.46
15.40
PCSK2 8.43
ZNF133 4.64
SLC24A3
4.75
STK35 4.83
7.20
3.84
2.09
ENTPD6
GINS1 8.39
3.34
PTPRA 7.16
COX4I2
TTLL9 3.06
HCK 5.64
RALY 10.91
SOGA1 3.72
VSTM2L 4.62
4.16
ADRA1D 2.77
7.76
RIMS4 4.85
PABPC1L;YWHAB 8.34
CDH22 14.35
SULF2 6.06
9.07
SALL4 5.38
27.70
TSHZ2 4.46
TSHZ2 4.72
8.23
18.48
8.28
4.70
NELFCD;CTSZ 1.01
PHACTR3 4.94
DIDO1 4.76
KCNQ2 4.34
SLC2A4RG;ZBTB46 3.54
DNAJC5 5.36
TCEA2 12.22
27.32
PLCB1 5.43
PLCB4 6.09
PAK5 7.54
5.28
NRIP1 4.82
4.96
2.66
3.56
4.33
TIAM1 7.72
6.78
2.60
DYRK1A 4.64
KCNJ6 9.62
3.73
20.02
BRWD1 5.94
DSCAM 5.44
BACE2 6.03
SLC37A1 4.55
15.26
ADARB1 5.32
ADARB1 11.78
7.99
BCL2L13 3.68
BID 7.71
COMT 8.04
YPEL1 9.46
GRK3 4.70
TPST2 5.74
2.64
5.32
4.92
OSBP2 1.96
PRR14L 9.74
CACNG2 5.91
PLA2G6 7.34
3.86
SYNGR1 6.07
TNRC6B 22.04
8.51
CYB5R3 5.54
TTC38;PKDREJ 5.99
7.63
7.33
FAM19A5 3.42
6.77
PLXNB2 8.82
Table S19. Gene burden associations for genes identified by GWAS fine-mapping of common variant signals to a single nonsynonymous variant wit
The table reports the fine-mapping-identified sentinel nonsynonymous variants (each with PPA > 95%) and the corresponding gene burden associatio
Abbreviations: chromosome, position, reference, alternative, CPRA; posterior probability of causal association, PPA; alternative allele frequency, AAF;
PPA
Sentinel variant (CPRA) Sentinel variant Chromosome Credible set Credible set Variants in 95% for sentinel
dbSNP rsID start position end position Credible Set variant
1:62017951:A:G rs41313250 1 62017951 62017951 1 0.97
1:62114219:G:T rs12140153 1 62114219 62114219 1 1.00
3:184258315:C:T rs11546878 3 184258315 184258315 1 0.99
4:25407216:G:A rs34811474 4 25407216 25407216 1 1.00
4:99318162:T:C rs1229984 4 99318162 99318162 1 1.00
8:144103704:G:A rs34173062 8 144103704 144103704 1 0.97
11:27658369:C:T rs6265 11 27658369 27658369 1 0.05
12:71785666:C:T rs61754230 12 71785666 71785666 1 1.00
13:28100491:T:C rs12872889 13 28100491 28100491 1 1.00
15:100152748:G:A rs72755233 15 100152748 100152748 1 1.00
18:60371544:A:T rs79783591 18 60371544 60371544 1 0.97
19:44908684:T:C rs429358 19 44908684 44908684 1 1.00
22:50283979:T:C rs79966207 22 50283979 50283979 1 0.98

single nonsynonymous variant with >95% posterior probability of causal association
esponding gene burden associations for the gene where those common variants are located.
; alternative allele frequency, AAF; human genome variation society, HGVS; standard deviation, SD; body mass index, BMI; confidence interval, CI; P-value, p; predict
AAF
for sentinel Sentinel variant Gene for
variant effect effect
0.1208 splice_region
PATJ
0.0933 missense
0.1746 missense ECE2
0.2257 missense ANAPC4
0.9705 missense ADH1B
0.0717 missense SHARPIN
0.1888 missense BDNF
0.0187 missense RAB21
0.2335 missense FLT3
0.1093 missense ADAMTS17
0.0103 missense MC4R
0.1495 missense APOE
0.1754 missense PLXNB2

probability of causal association
here those common variants are located.
variation society, HGVS; standard deviation, SD; body mass index, BMI; confidence interval, CI; P-value, p; predicted loss of function variants, pLOF.
Affected transcripts
ENST00000635137:ENST00000307297:ENST00000371158
ENST00000324557
ENST00000315368:ENST00000510092
ENST00000305046:ENST00000625860:ENST00000506651
ENST00000398712
ENST00000438929:ENST00000439476:ENST00000395986:ENST00000533131:ENST00000356660:ENST00000418212:ENST00000533246:ENST0
0000530861:
ENST00000395983:ENST00000420794:ENST00000395980:ENST00000532997:ENST00000395978:ENST00000395981:ENST00000525950:ENST0
0000314915:ENST00000525528
ENST00000261263
ENST00000241453
ENST00000268070
ENST00000299766
ENST00000252486
ENST00000359337:ENST00000449103
cDNA Effect HGVS Protein effect
c.311+4A>G:c.311+4A>G:c.3959+4A>G
c.980G>T:c.1070G>T:c.4628G>T p.Gly327Val:p.Gly357Val:p.Gly1543Val
c.508C>T p.Arg170Trp
c.1394G>A:c.1397G>A p.Arg465Gln:p.Arg466Gln
c.143A>G:c.23A>G:c.23A>G p.His48Arg:p.His8Arg:p.His8Arg
c.50C>T p.Ser17Phe
c.442G>A:c.196G>A:c.241G>A:c.196G>A:c.196G>
al66Met:p.Val66Met:p.Val66Met:p.Val66Met:p.Val66
A:c.196G>A:c.196G>A:c.196G>A:c.196G>A:
Met:
c.196G>A:c.196G>A:c.196G>A:c.196G>A:c.196G>
A:c.196G>A:c.220G>A:c.196G>A p.Val66Met:p.Val66Met:p.Val66Met:p.Val66Met:p.Val
c.671C>T p.Ser224Phe
c.20A>G p.Asp7Gly
c.1337C>T p.Thr446Ile
c.806T>A p.Ile269Asn
c.388T>C p.Cys130Arg
c.2275A>G:c.2275A>G p.Asn759Asp:p.Asn759Asp
Beta in SD
of BMI per 95% CI
Gene burden type allele lower
for gene bound
burden
pLOF; AAF < 1% 0.01 -0.04

pLOF plus predicted deleterious (5/5 in silico prediction algorithms); AAF < 1% -0.01 -0.03
pLOF; AAF < 1% 0.01 -0.04
pLOF; AAF < 1% -0.01 -0.07
pLOF; AAF < 1% -0.03 -0.12
pLOF; AAF < 1% 0.01 -0.05
pLOF; AAF < 1% -0.02 -0.13
pLOF; AAF < 1% 0.04 -0.02
pLOF plus predicted deleterious (5/5 in silico prediction algorithms); AAF < 1% 0.03 0.01
pLOF; AAF < 1% 0.33 0.14
pLOF; AAF < 1% -0.07 -0.18
pLOF; AAF < 1% 0.11 0.03
pLOF; AAF < 1% 0.50 0.40
pLOF; AAF < 1% 0.10 -0.05
pLOF; AAF < 1% 0.05 -0.05
pLOF plus predicted deleterious (5/5 in silico prediction algorithms); AAF < 1% 0.01 -0.01
95% CI AAF
upper p for burden
bound exposure
0.05 8.2E-01 0.0012

0.00 1.6E-01 0.0121
0.05 8.2E-01 0.0012
0.00 1.6E-01 0.0121
0.04 6.9E-01 0.0008
0.00 5.7E-02 0.0047
0.06 5.5E-01 0.0003
0.05 7.8E-01 0.0008
0.07 7.2E-01 0.0007
-0.01 1.7E-03 0.0075
0.09 7.6E-01 0.0002
0.02 1.9E-01 0.0011
0.09 1.9E-01 0.0009
0.06 6.3E-03 0.0042
0.52 6.5E-04 0.0001
0.29 5.2E-03 0.0002
0.03 1.6E-01 0.0002
0.03 5.6E-01 0.0015
0.18 4.0E-03 0.0005
0.07 9.0E-06 0.0055
0.60 1.4E-22 0.0003
0.34 4.0E-48 0.0016
0.26 2.0E-01 0.0001
0.04 4.1E-01 0.0004
0.15 3.0E-01 0.0003
0.03 3.3E-01 0.0064
Table S20. Association with BMI for the burden of rare nonsynonymous variants in genes at the FTO locus.
Abbreviations: confidence interval, CI; standard deviation, SD; body mass index, BMI; kilograms per square meter, kg/m2; P-value, p; alternative allele
Beta (95% CI) per allele in SD units
Gene Genetic exposure, variant type; frequency cutoff in %
of BMI
CHD9 pLOF; AAF < 1% 0.12

(-0.0053, 0.24)
0.012
CHD9 pLOF plus any missense; AAF < 0.1% (-0.002, 0.027)
0.0057
CHD9 pLOF plus any missense; AAF < 1%
(-0.0057, 0.017)
0.038
CHD9 pLOF plus deleterious missense (5/5); AAF < 0.1%
(0.014, 0.063)
0.038
CHD9 pLOF plus deleterious missense (5/5); AAF < 1% (0.014, 0.063)
0.014
CHD9 pLOF plus deleterious missense (1/5); AAF < 0.1% (-8e-04, 0.029)
0.0062
CHD9 pLOF plus deleterious missense (1/5); AAF < 1% (-0.0054, 0.018)
0.056
AC007906.1 pLOF; AAF < 1% (-0.096, 0.21)
0.0087
AC007906.1 pLOF plus any missense; AAF < 0.1%
(-0.035, 0.053)
0.0087
AC007906.1 pLOF plus any missense; AAF < 1%
(-0.035, 0.053)
-0.0073
AC007906.1 pLOF plus deleterious missense (5/5); AAF < 0.1% (-0.12, 0.1)
AC007906.1 pLOF plus deleterious missense (5/5); AAF < 1% -0.0073

(-0.12, 0.1)
0.0083
AC007906.1 pLOF plus deleterious missense (1/5); AAF < 0.1%
(-0.036, 0.052)
0.0083
AC007906.1 pLOF plus deleterious missense (1/5); AAF < 1%
(-0.036, 0.052)
0.053
RBL2 pLOF; AAF < 1%
(-0.061, 0.17)
0.016
RBL2 pLOF plus any missense; AAF < 0.1%
(-0.0022, 0.034)
RBL2 pLOF plus any missense; AAF < 1% 0.0073

(-0.0056, 0.02)
0.0067
RBL2 pLOF plus deleterious missense (5/5); AAF < 0.1% (-0.018, 0.031)
0.012
RBL2 pLOF plus deleterious missense (5/5); AAF < 1% (-0.011, 0.034)
0.015
RBL2 pLOF plus deleterious missense (1/5); AAF < 0.1% (-0.0038, 0.033)
0.0064
RBL2 pLOF plus deleterious missense (1/5); AAF < 1%
(-0.0065, 0.019)
-0.1
AKTIP pLOF; AAF < 1% (-0.36, 0.16)
-0.022
AKTIP pLOF plus any missense; AAF < 0.1%
(-0.071, 0.027)
-0.0041
AKTIP pLOF plus any missense; AAF < 1%
(-0.026, 0.017)
-0.031
AKTIP pLOF plus deleterious missense (5/5); AAF < 0.1%
(-0.1, 0.042)
-0.031
AKTIP pLOF plus deleterious missense (5/5); AAF < 1%
(-0.1, 0.042)
-0.027
AKTIP pLOF plus deleterious missense (1/5); AAF < 0.1% (-0.076, 0.022)
AKTIP pLOF plus deleterious missense (1/5); AAF < 1% -0.005

(-0.027, 0.017)
RPGRIP1L pLOF; AAF < 1% 3e-04

(-0.058, 0.058)
-0.0012
RPGRIP1L pLOF plus any missense; AAF < 0.1%
(-0.016, 0.014)
-0.0021
RPGRIP1L pLOF plus any missense; AAF < 1%
(-0.013, 0.0093)
RPGRIP1L pLOF plus deleterious missense (5/5); AAF < 0.1% 0.0078
(-0.017, 0.033)
0.0025
RPGRIP1L pLOF plus deleterious missense (5/5); AAF < 1% (-0.02, 0.025)
0.0088
RPGRIP1L pLOF plus deleterious missense (1/5); AAF < 0.1%
(-0.0079, 0.025)
0.0029
RPGRIP1L pLOF plus deleterious missense (1/5); AAF < 1%
(-0.011, 0.017)
0.082
FTO pLOF; AAF < 1% (-0.039, 0.2)
0.014
FTO pLOF plus any missense; AAF < 0.1%
(-0.0082, 0.035)
-0.0044
FTO pLOF plus any missense; AAF < 1% (-0.019, 0.01)
0.033
FTO pLOF plus deleterious missense (5/5); AAF < 0.1% (-0.0045, 0.07)
0.03
FTO pLOF plus deleterious missense (5/5); AAF < 1%
(-0.0058, 0.065)
0.013
FTO pLOF plus deleterious missense (1/5); AAF < 0.1%
(-0.0095, 0.036)
-0.0033
FTO pLOF plus deleterious missense (1/5); AAF < 1% (-0.02, 0.013)
IRX3 pLOF; AAF < 1% -0.031

(-0.22, 0.16)
IRX3 pLOF plus any missense; AAF < 0.1% -0.0084

(-0.034, 0.017)
0.0056
IRX3 pLOF plus any missense; AAF < 1%
(-0.013, 0.024)
IRX3 pLOF plus deleterious missense (5/5); AAF < 0.1% -0.028
(-0.1, 0.047)
IRX3 pLOF plus deleterious missense (5/5); AAF < 1% -0.028

(-0.1, 0.047)
IRX3 pLOF plus deleterious missense (1/5); AAF < 0.1% -0.0027
(-0.03, 0.024)
0.0094
IRX3 pLOF plus deleterious missense (1/5); AAF < 1% (-0.0098, 0.029)
-0.02
IRX5 pLOF; AAF < 1%
(-0.18, 0.14)
-0.02
IRX5 pLOF plus any missense; AAF < 0.1% (-0.045, 0.0051)
-0.013
IRX5 pLOF plus any missense; AAF < 1%
(-0.029, 0.0027)
-0.063
IRX5 pLOF plus deleterious missense (5/5); AAF < 0.1%
(-0.13, 0.0013)
-0.063
IRX5 pLOF plus deleterious missense (5/5); AAF < 1% (-0.13, 0.0013)
-0.014
IRX5 pLOF plus deleterious missense (1/5); AAF < 0.1% (-0.04, 0.012)
IRX5 pLOF plus deleterious missense (1/5); AAF < 1% -0.011

(-0.027, 0.0052)
/m2; P-value, p; alternative allele frequency, AAF; reference-reference genotype, RR; reference-alternative genotype, RA; alternative-alternative genotype, AA; pred
Beta (95% CI) per allele in kg/m2
units of BMI
0.63 6.1E-02 0.00017 645,408|218|0
(-0.03, 1.28)
0.07
(-0.01, 0.14) 9.3E-02 0.01257 629,406|16,214|6
0.03
3.3E-01 0.01992 619,936|25,657|33
(-0.03, 0.09)
0.21
2.2E-03 0.00417 640,240|5,386|0
(0.07, 0.34)
0.21
(0.07, 0.34) 2.2E-03 0.00417 640,240|5,386|0
0.08
(0, 0.15) 6.5E-02 0.01175 630,454|15,166|6
0.03
(-0.03, 0.1) 3.0E-01 0.01912 620,972|24,621|33
0.3
(-0.52, 1.12) 4.7E-01 0.00011 645,482|144|0
0.05
7.0E-01 0.00129 643,955|1,671|0
(-0.19, 0.28)
0.05
7.0E-01 0.00129 643,955|1,671|0
(-0.19, 0.28)
-0.04
(-0.63, 0.55) 9.0E-01 0.00021 645,352|274|0
-0.04 9.0E-01 0.00021 645,352|274|0

(-0.63, 0.55)
0.04
7.1E-01 0.00128 643,968|1,658|0
(-0.19, 0.28)
0.04
7.1E-01 0.00128 643,968|1,658|0
(-0.19, 0.28)
0.29
3.6E-01 0.00019 645,381|245|0
(-0.33, 0.91)
0.09
8.6E-02 0.00780 635,560|10,065|1
(-0.01, 0.18)
0.04 2.6E-01 0.01567 625,401|20,210|15
(-0.03, 0.11)
0.04
(-0.1, 0.17) 5.9E-01 0.00423 640,160|5,466|0
0.06
(-0.06, 0.18) 3.1E-01 0.00500 639,175|6,448|3
0.08
(-0.02, 0.18) 1.2E-01 0.00739 636,081|9,544|1
0.03
3.4E-01 0.01528 625,916|19,695|15
(-0.04, 0.1)
-0.56
(-1.96, 0.85) 4.4E-01 0.00004 645,579|47|0
-0.12
3.8E-01 0.00107 644,245|1,381|0
(-0.38, 0.14)
-0.02
7.1E-01 0.00534 638,751|6,860|15
(-0.14, 0.09)
-0.17
4.0E-01 0.00048 645,012|614|0
(-0.56, 0.22)
-0.17
4.0E-01 0.00048 645,012|614|0
(-0.56, 0.22)
-0.15
(-0.41, 0.12) 2.8E-01 0.00105 644,269|1,357|0
-0.03 6.5E-01 0.00532 638,774|6,837|15

(-0.14, 0.09)
0 9.9E-01 0.00074 644,666|960|0
(-0.31, 0.31)
-0.01
8.7E-01 0.01155 630,724|14,893|9
(-0.09, 0.07)
-0.01
7.1E-01 0.02043 619,278|26,317|31
(-0.07, 0.05)
0.04 5.5E-01 0.00391 640,575|5,048|3
(-0.09, 0.18)
0.01
(-0.11, 0.14) 8.3E-01 0.00503 639,137|6,485|4
0.05
3.0E-01 0.00907 633,926|11,693|7
(-0.04, 0.14)
0.02
7.0E-01 0.01237 629,668|15,947|11
(-0.06, 0.09)
0.44
(-0.21, 1.09) 1.9E-01 0.00018 645,398|228|0
0.07
2.2E-01 0.00531 638,775|6,845|6
(-0.04, 0.19)
-0.02
(-0.1, 0.06) 5.6E-01 0.01196 630,212|15,390|24
0.18
(-0.02, 0.38) 8.5E-02 0.00180 643,306|2,319|1
0.16
1.0E-01 0.00201 643,029|2,595|2
(-0.03, 0.35)
0.07
2.6E-01 0.00483 639,399|6,222|5
(-0.05, 0.19)
-0.02
(-0.11, 0.07) 6.9E-01 0.00952 633,361|12,242|23
-0.17 7.5E-01 0.00007 645,538|88|0

(-1.2, 0.87)
-0.05 5.1E-01 0.00400 640,468|5,153|5
(-0.18, 0.09)
0.03
5.6E-01 0.00736 636,141|9,470|15
(-0.07, 0.13)
-0.15 4.6E-01 0.00044 645,055|571|0
(-0.56, 0.25)
-0.15 4.6E-01 0.00044 645,055|571|0
(-0.56, 0.25)
-0.01 8.4E-01 0.00351 641,105|4,516|5
(-0.16, 0.13)
0.05
(-0.05, 0.15) 3.4E-01 0.00687 636,776|8,835|15
-0.11
8.1E-01 0.00010 645,499|127|0
(-0.97, 0.75)
-0.11
(-0.24, 0.03) 1.2E-01 0.00407 640,382|5,238|6
-0.07
1.0E-01 0.01008 632,637|12,957|32
(-0.16, 0.01)
-0.34
5.5E-02 0.00060 644,856|770|0
(-0.69, 0.01)
-0.34
(-0.69, 0.01) 5.5E-02 0.00060 644,856|770|0
-0.08
(-0.22, 0.07) 3.0E-01 0.00365 640,922|4,699|5
-0.06 1.8E-01 0.00967 633,169|12,426|31

(-0.15, 0.03)
ternative-alternative genotype, AA; predicted loss of function, pLOF.
Table S21. Colocalization between BMI and gene expression common variant signals in the regions identified by exome sequencing gene burden an
For the regions identified in the exome sequencing gene burden analysis (see Table S14), this Table lists BMI sentinel variants that had a high probabil
Abbreviations: chromosome, position, reference, alternative, CPRA; EUR, European ancestry GTEx dataset; ALL, all ancestries GTEx dataset; posterior
causal variant associated with the eQTL at this locus; PP3, posterior probability for two seperate genetic variants which influence the BMI and eQTL se
Fine-mapped sentinel variant for BMI
(CPRA) Gene GTEx Dataset
19:32333404:C:A DPY19L3 EUR

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5:96383590:C:T PCSK1 EUR
5:96383590:C:T PCSK1 EUR
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19:32333404:C:A ZNF507 ALL
19:4444446:C:T MPND ALL
19:4444446:C:T MPND ALL
19:4444446:C:T MPND ALL
19:4444446:C:T UBXN6 ALL
19:4444446:C:T UBXN6 ALL
19:4444446:C:T UBXN6 ALL
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19:4444446:C:T UBXN6 ALL
19:4444446:C:T UBXN6 ALL
19:4444446:C:T UBXN6 ALL
5:96383590:C:T GPR150 ALL
5:96383590:C:T PCSK1 ALL
5:96383590:C:T PCSK1 ALL
5:96383590:C:T PCSK1 ALL
5:96383590:C:T PCSK1 ALL
5:96383590:C:T PCSK1 ALL
5:96383590:C:T PCSK1 ALL
in the regions identified by exome sequencing gene burden analysis.
4), this Table lists BMI sentinel variants that had a high probability of a shared causal signal with gene expression associations in the same region (posterior probabili
cestry GTEx dataset; ALL, all ancestries GTEx dataset; posterior probability, PP; Genotype tissue expression project, GTEx;eQTL, expression quantitative trait locus; P
o seperate genetic variants which influence the BMI and eQTL seperately; PP4, posterior probability for a single causal variant shared by BMI and the eQTL signals.
GTEx Tissue PP0 PP1
Artery_Aorta 3.0E-05 3.3E-04

Adipose_Subcutaneous 5.8E-17 6.4E-16
Adipose_Visceral_Omentum 9.0E-14 9.8E-13
Artery_Coronary 2.2E-04 2.4E-03
Artery_Tibial 4.3E-24 4.8E-23
Brain_Putamen_basal_ganglia 2.7E-07 3.0E-06
Breast_Mammary_Tissue 3.7E-11 4.1E-10
Cells_Cultured_fibroblasts 6.3E-09 6.9E-08
Colon_Sigmoid 1.9E-09 2.1E-08
Colon_Transverse 1.2E-03 1.3E-02
Esophagus_Gastroesophageal_Junction 1.0E-16 1.1E-15
Esophagus_Mucosa 1.2E-11 1.3E-10
Esophagus_Muscularis 2.1E-18 2.3E-17
Heart_Atrial_Appendage 6.7E-17 7.3E-16
Heart_Left_Ventricle 1.1E-11 1.2E-10
Lung 3.7E-10 4.1E-09
Minor_Salivary_Gland 2.5E-04 2.7E-03
Muscle_Skeletal 1.6E-25 1.8E-24
Nerve_Tibial 4.7E-22 5.1E-21
Pancreas 4.0E-04 4.4E-03
Skin_Sun_Exposed_Lower_leg 2.3E-05 2.5E-04
Testis 1.1E-29 1.2E-28
Thyroid 1.9E-20 2.1E-19
Skin_Not_Sun_Exposed_Suprapubic 1.5E-19 6.0E-18
Whole_Blood 1.9E-49 1.3E-02
Artery_Tibial 4.7E-30 5.2E-29
Brain_Hippocampus 5.6E-04 6.2E-03
Brain_Putamen_basal_ganglia 4.2E-06 4.6E-05
Colon_Sigmoid 1.8E-10 2.0E-09
Colon_Transverse 2.9E-08 3.2E-07
Esophagus_Gastroesophageal_Junction 1.8E-20 2.0E-19
Esophagus_Muscularis 6.0E-26 6.6E-25
Heart_Left_Ventricle 5.5E-13 6.0E-12
Lung 3.9E-11 4.3E-10
Nerve_Tibial 1.5E-30 1.6E-29
Ovary 2.7E-07 2.9E-06
Testis 6.0E-35 6.6E-34
Thyroid 1.7E-20 1.9E-19
Whole_Blood 1.3E-12 5.2E-11
Lung 3.0E-13 3.8E-02
Thyroid 1.9E-13 2.5E-02
th gene expression associations in the same region (posterior probability of a single causal variant shared by BMI and eQTL signals, PP4 > 0.8).
ue expression project, GTEx;eQTL, expression quantitative trait locus; PP0, posterior probability for no association at this locus; PP1, posterior probability for a causal
ability for a single causal variant shared by BMI and the eQTL signals.
PP2 PP3 PP4
1.4E-02 1.5E-01 0.84

8.5E-03 9.2E-02 0.90
4.6E-03 5.0E-02 0.95
8.4E-03 9.1E-02 0.90
3.8E-03 4.1E-02 0.95
4.6E-03 5.0E-02 0.95
1.6E-03 1.7E-02 0.98
3.6E-04 3.0E-03 1.00
3.7E-04 3.1E-03 1.00
1.9E-03 1.9E-02 0.98
2.7E-03 2.8E-02 0.95
1.2E-03 1.2E-02 0.99
1.7E-03 1.8E-02 0.98
3.7E-03 4.0E-02 0.96
3.7E-04 3.1E-03 1.00
3.8E-04 3.2E-03 1.00
3.3E-04 2.7E-03 1.00
3.2E-03 3.4E-02 0.96
3.3E-04 2.6E-03 1.00
6.7E-03 7.3E-02 0.92
5.8E-04 5.4E-03 0.99
4.6E-04 4.0E-03 1.00
9.4E-03 1.0E-01 0.89
6.9E-03 7.5E-02 0.92
1.1E-03 4.2E-02 0.96
2.2E-03 8.4E-02 0.91
3.7E-03 1.5E-01 0.85
3.1E-03 1.2E-01 0.88
1.1E-03 4.3E-02 0.96
2.8E-03 1.1E-01 0.89
3.5E-04 1.3E-02 0.99
4.9E-03 1.9E-01 0.80
2.0E-49 1.3E-02 0.97
3.2E-13 4.0E-02 0.96
3.4E-13 4.3E-02 0.96
3.3E-13 4.2E-02 0.96
6.0E-13 7.6E-02 0.92
3.3E-13 4.2E-02 0.95
9.4E-03 1.0E-01 0.89
9.4E-03 1.0E-01 0.89
9.4E-03 1.0E-01 0.89
9.3E-03 1.0E-01 0.89
9.2E-03 1.0E-01 0.89
5.7E-03 6.2E-02 0.93
8.2E-03 8.9E-02 0.90
5.3E-04 4.9E-03 0.99
8.3E-03 9.0E-02 0.90
8.2E-03 8.9E-02 0.90
1.2E-03 1.2E-02 0.99
9.4E-03 1.0E-01 0.89
8.7E-03 9.5E-02 0.90
9.4E-03 1.0E-01 0.89
9.4E-03 1.0E-01 0.89
9.6E-04 9.6E-03 0.99
1.0E-03 1.0E-02 0.99
3.2E-04 2.5E-03 1.00
9.4E-03 1.0E-01 0.89
8.4E-03 9.1E-02 0.90
1.1E-03 1.1E-02 0.99
3.2E-03 3.4E-02 0.96
3.6E-04 3.0E-03 1.00
9.4E-03 1.0E-01 0.89
9.2E-03 1.0E-01 0.89
1.9E-03 7.4E-02 0.92
1.1E-03 4.2E-02 0.96
3.6E-03 1.4E-01 0.85
4.4E-04 1.6E-02 0.98
1.8E-03 7.2E-02 0.93
3.5E-03 1.4E-01 0.86
1.3E-03 5.0E-02 0.95
9.1E-04 3.5E-02 0.96
1.7E-03 6.5E-02 0.93
1.0E-03 4.0E-02 0.96
1.8E-03 6.9E-02 0.93
1.2E-03 4.8E-02 0.95
4.6E-03 1.8E-01 0.82
2.7E-13 3.3E-02 0.94
2.6E-13 3.3E-02 0.97
5.0E-13 6.3E-02 0.94
4.4E-13 5.6E-02 0.94
7.5E-13 9.5E-02 0.87
4.9E-13 6.2E-02 0.94
5.4E-13 6.8E-02 0.91
P4 > 0.8).
osterior probability for a causal variant associated with BMI at this locus; PP2, posterior probability for a

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Table S1. Baseline characteristics of individuals included in the exome-wide association study.

GPR75 pLOF; AAF < 1% GHS -0.27

ROBO1 pLOF; AAF < 1% UKB 0.25

ROBO1 pLOF; AAF < 1% MCPS 0.18

UBR2 pLOF; AAF < 1% MCPS 0.09

UBR2 pLOF; AAF < 1% GHS 0.27

PDE3B pLOF; AAF < 1% UKB 0.10

ANO4 pLOF; AAF < 1% UKB 0.25

p AAF, fraction of 1 Genotype counts, RR|RA|AA genotypes

2.2E-05 0.0056 423,919|4,790|10

7.6E-01 0.0009 95,674|172|0

1.6E-04 0.0048 119,906|1,155|0

6.6E-06 0.0002 428,572|147|0

7.1E-03 0.0002 95,816|30|0

3.6E-02 0.0002 121,010|51|0

4.0E-06 0.0003 428,432|287|0

1.4E-01 0.0003 95,784|62|0

1.3E-02 0.0004 120,966|95|0

3.0E-07 0.0011 427,799|920|0

6.5E-02 0.0013 95,593|253|0

2.3E-01 0.0009 120,846|215|0

4.2E-05 0.0002 428,569|150|0

2.6E-01 0.0001 95,825|21|0

8.9E-05 0.0004 120,974|87|0

4.5E-10 0.0109 419,377|9,303|39

7.7E-01 0.0057 94,749|1,094|3

4.4E-01 0.0082 119,083|1,975|3

4.3E-09 0.0111 419,206|9,489|24

6.4E-01 0.0092 94,094|1,750|2

1.6E-04 0.0135 117,794|3,255|12

1.0E-07 0.0002 428,576|143|0

7.2E-01 0.0001 95,831|15|0

2.1E-03 0.0004 120,956|105|0

6.6E-06 0.0049 424,507|4,212|0

4.5E-10 0.0048 119,910|1,151|0

6.9E-05 0.0014 427,508|1,211|0

2.1E-05 0.0005 95,758|88|0

6.6E-02 0.001 120,808|253|0

1.1E-04 0.0002 428,523|196|0

1.4E-01 0.0002 95,813|33|0

4.9E-06 0.0006 120,912|149|0

1.1E-04 0.0113 419,014|9,697|8

6.4E-01 0.006 94,694|1,150|2

3.6E-04 0.0165 117,061|3,997|3

4.5E-28 0.0014 427,498|1,221|0

4.5E-07 0.0018 95,508|337|1

1.6E-16 0.002 120,583|478|0

9.0E-09 0.0062 423,427|5,281|11

8.2E-01 0.0031 95,260|583|3

7.9E-02 0.0066 119,454|1,605|2

2.9E-08 0.0177 413,568|15,125|26

6.5E-01 0.0135 93,254|2,587|5

2.6E-03 0.0178 116,750|4,304|7

3.6E-10 0.0069 422,820|5,893|6

1.2E-03 0.0068 94,542|1,302|2

1.3E-08 0.0072 119,318|1,742|1

Genetic exposure, variant

Age ≤ median value in -0.33

ANO4 pLOF; AAF < 1% 2.01 3.3E-06

0.0048 198,955|1,702|1 184,430|1,997|2

0.0002 200,613|45|0 186,335|94|0

0.0004 200,479|179|0 186,331|98|0

0.0011 200,180|478|0 186,092|337|0