TGN - SMAD3

View Mode Credible Sets LD Summary (0.6 r2 threshold, 1KGp3:EUR) Hide non-coding genes

Summary (SMAD3 TSS Ensembl 90:chr15:67,065,845)

Association Results

Display Name	Phenotype	Source	Year	Index Variant	Allele	Pvalue	OR/Beta	Curator Comment
Standing Height 4.90e-64 0.06 G	Standing Height	UKBB - Neale Lab Analysis	2018	rs35874463	G	4.90e-64	0.06
FINNGEN - Asthma Main 2.10e-04 0.11	FINNGEN - Asthma Main	FinnGen freeze 1	2018	rs72743477		2.10e-04	0.11	J10_ASTHMA_MAIN phenotype
Lung function (FEV1/FVC) 3.00e-07 G	Lung function (FEV1/FVC)	Wain LV; Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.	2017	rs17294280	G	3.00e-07
Inflammatory bowel disease 3.00e-21	Inflammatory bowel disease	de Lange KM; Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.	2017	rs17293632		3.00e-21
Ulcerative colitis 2.00e-08	Ulcerative colitis	de Lange KM; Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.	2017	rs17293632		2.00e-08
Crohn's disease (time to surgery) 2.00e-19	Crohn's disease (time to surgery)	de Lange KM; Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.	2017	rs17293632		2.00e-19
Thyroid cancer 5.00e-09 1.24 T	Thyroid cancer	Gudmundsson J; A genome-wide association study yields five novel thyroid cancer risk loci.	2017	rs56062135	T	5.00e-09	1.24
Thyroid cancer 3.00e-09 1.23 C	Thyroid cancer	Gudmundsson J; A genome-wide association study yields five novel thyroid cancer risk loci.	2017	rs2289261	C	3.00e-09	1.23
Crohns Fine Mapping Set 1 1.00e-19 1.10	Fine Mapping Set 1	Huang H; Fine-mapping inflammatory bowel disease loci to single-variant resolution.	2017	rs17293632		1.00e-19	1.10
Crohns Fine Mapping Set 2 1.00e-10 1.10	Crohns Fine Mapping Set 2	Huang H; Fine-mapping inflammatory bowel disease loci to single-variant resolution.	2017	rs35874463		1.00e-10	1.10
Number of self-reported non-cancer illnesses 7.08e-11 -0.01 G	Number of self-reported non-cancer illnesses	UK Biobank Rapid GWAS	2017	rs7173826	G Audited	7.08e-11	-0.01	variant: 15:67528374:T:G; nCompleteSamples: 337159; AC: 2.19895e+05; ytx: 2.69281e+05; se: 2.13782e-03; tstat: -6.51920e+00;
Comparative height size at age 10 3.50e-45 0.05 G	Comparative height size at age 10	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	3.50e-45	0.05	variant: 15:67457698:A:G; nCompleteSamples: 332021; AC: 3.83330e+04; ytx: 8.05880e+04; se: 3.54686e-03; tstat: 1.41078e+01;
Comparative height size at age 10 6.46e-09 -0.01 C	Comparative height size at age 10	UK Biobank Rapid GWAS	2017	rs2289790	C Audited	6.46e-09	-0.01	variant: 15:67476970:T:C; nCompleteSamples: 332021; AC: 1.60414e+05; ytx: 3.28529e+05; se: 1.94990e-03; tstat: -5.80448e+00;
Nervous feelings 3.46e-07 0.01 T	Nervous feelings	UK Biobank Rapid GWAS	2017	rs10152593	T Audited	3.46e-07	0.01	variant: 15:67475435:C:T; nCompleteSamples: 328725; AC: 1.96072e+05; ytx: 4.71773e+04; se: 1.15058e-03; tstat: 5.09638e+00;
Non-cancer illness code, self-reported: asthma 4.94e-37 0.01 A	Non-cancer illness code, self-reported: asthma	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	4.94e-37	0.01	variant: 15:67441750:C:A; nCompleteSamples: 337159; AC: 1.59804e+05; ytx: 1.99337e+04; se: 9.17020e-04; tstat: 1.27156e+01;
Non-cancer illness code, self-reported: asthma 2.78e-15 -0.01 G	Non-cancer illness code, self-reported: asthma	UK Biobank Rapid GWAS	2017	rs10152595	G	2.78e-15	-0.01	variant: 15:67475488:C:G; nCompleteSamples: 337159; AC: 1.67764e+05; ytx: 1.85539e+04; se: 9.07972e-04; tstat: -7.90078e+00;
Non-cancer illness code, self-reported: asthma 1.25e-12 0.01 G	Non-cancer illness code, self-reported: asthma	UK Biobank Rapid GWAS	2017	rs12592283	G Audited	1.25e-12	0.01	variant: 15:67371420:T:G; nCompleteSamples: 337159; AC: 7.31023e+04; ytx: 9.04463e+03; se: 1.26591e-03; tstat: 7.10046e+00;
Non-cancer illness code, self-reported: hayfever/allergic rhinitis 4.05e-11 0.00 A	Non-cancer illness code, self-reported: hayfever/allergic rhinitis	UK Biobank Rapid GWAS	2017	rs56375023	A Audited	4.05e-11	0.00	variant: 15:67448363:G:A; nCompleteSamples: 337159; AC: 1.59918e+05; ytx: 9.71437e+03; se: 6.65969e-04; tstat: 6.60237e+00;
Treatment/medication code: ventolin 100micrograms inhaler 2.26e-07 -0.00 G	Treatment/medication code: ventolin 100micrograms inhaler	UK Biobank Rapid GWAS	2017	rs10438355	G	2.26e-07	0.00	variant: 15:67487549:C:G; nCompleteSamples: 337159; AC: 1.55771e+05; ytx: 4.19161e+03; se: 4.84549e-04; tstat: -5.17647e+00;
Treatment/medication code: ventolin 100micrograms inhaler 3.24e-11 0.00 A	Treatment/medication code: ventolin 100micrograms inhaler	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	3.24e-11	0.00	variant: 15:67441750:C:A; nCompleteSamples: 337159; AC: 1.59804e+05; ytx: 4.99104e+03; se: 4.79546e-04; tstat: 6.63535e+00;
Treatment/medication code: phenergan 10mg tablet 6.74e-07 0.00 A	Treatment/medication code: phenergan 10mg tablet	UK Biobank Rapid GWAS	2017	rs55970514	A Audited	6.74e-07	0.00	variant: 15:67483717:G:A; nCompleteSamples: 337159; AC: 1.89930e+04; ytx: 1.50000e+01; se: 1.14074e-04; tstat: 4.96872e+00;
Treatment/medication code: regulan 3.6g/sachet powder 4.04e-09 0.00 A	Treatment/medication code: regulan 3.6g/sachet powder	UK Biobank Rapid GWAS	2017	rs140334701	A Audited	4.04e-09	0.00	variant: 15:67517518:G:A; nCompleteSamples: 337159; AC: 7.67152e+03; ytx: 9.60784e+00; se: 1.86254e-04; tstat: 5.88260e+00;
Treatment/medication code: fosamax 5mg tablet 5.77e-07 0.00 T	Treatment/medication code: fosamax 5mg tablet	UK Biobank Rapid GWAS	2017	rs118128985	T Audited	5.77e-07	0.00	variant: 15:67463106:C:T; nCompleteSamples: 337159; AC: 9.42900e+03; ytx: 2.70000e+01; se: 3.49741e-04; tstat: 4.99879e+00;
Treatment/medication code: seretide 50 evohaler 4.61e-07 0.00 T	Treatment/medication code: seretide 50 evohaler	UK Biobank Rapid GWAS	2017	rs17293632	T Audited	4.61e-07	0.00	variant: 15:67442596:C:T; nCompleteSamples: 337159; AC: 1.59860e+05; ytx: 2.06700e+03; se: 3.08734e-04; tstat: 5.04195e+00;
Sitting height 8.27e-08 -0.01 T	Sitting height	UK Biobank Rapid GWAS	2017	rs266304	T Audited	8.27e-08	-0.01	variant: 15:67312334:C:T; nCompleteSamples: 336172; AC: 5.28377e+05; ytx: 2.74148e+04; se: 2.28713e-03; tstat: -5.36125e+00;
Sitting height 2.00e-25 0.04 G	Sitting height	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.00e-25	0.04	variant: 15:67457698:A:G; nCompleteSamples: 336172; AC: 3.88060e+04; ytx: 3.77856e+03; se: 4.01682e-03; tstat: 1.04212e+01;
Sitting height 3.85e-13 0.01 C	Sitting height	UK Biobank Rapid GWAS	2017	rs12914117	C Audited	3.85e-13	0.01	variant: 15:67381213:T:C; nCompleteSamples: 336172; AC: 3.67791e+05; ytx: 2.20521e+04; se: 1.88859e-03; tstat: 7.26106e+00;
Forced vital capacity (FVC), Best measure 2.15e-09 -0.01 G	Forced vital capacity (FVC), Best measure	UK Biobank Rapid GWAS	2017	rs7173826	G Audited	2.15e-09	-0.01	variant: 15:67528374:T:G; nCompleteSamples: 255492; AC: 1.66467e+05; ytx: 4.81504e+02; se: 2.30679e-03; tstat: -5.98613e+00;
Forced vital capacity (FVC), Best measure 2.75e-07 0.02 G	Forced vital capacity (FVC), Best measure	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.75e-07	0.02	variant: 15:67457698:A:G; nCompleteSamples: 255492; AC: 2.95240e+04; ytx: 1.11737e+03; se: 4.62731e-03; tstat: 5.13970e+00;
Weight 3.46e-11 0.03 G	Weight	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	3.46e-11	0.03	variant: 15:67457698:A:G; nCompleteSamples: 336227; AC: 3.88260e+04; ytx: 1.96199e+03; se: 4.54054e-03; tstat: 6.62582e+00;
Weight 2.44e-07 -0.01 T	Weight	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	2.44e-07	-0.01	variant: 15:67476952:G:T; nCompleteSamples: 336227; AC: 1.65585e+05; ytx: 1.27426e+03; se: 2.47979e-03; tstat: -5.16217e+00;
Weight 1.41e-08 0.01 A	Weight	UK Biobank Rapid GWAS	2017	rs11634686	A Audited	1.41e-08	0.01	variant: 15:67382051:G:A; nCompleteSamples: 336227; AC: 3.44907e+05; ytx: 8.41107e+03; se: 2.12584e-03; tstat: 5.67232e+00;
Long-standing illness, disability or infirmity 8.44e-07 -0.01 T	Long-standing illness, disability or infirmity	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	8.44e-07	-0.01	variant: 15:67476952:G:T; nCompleteSamples: 329663; AC: 1.62311e+05; ytx: 5.19312e+04; se: 1.34666e-03; tstat: -4.92511e+00;
Doctor diagnosed hayfever or allergic rhinitis 9.83e-07 0.01 T	Doctor diagnosed hayfever or allergic rhinitis	UK Biobank Rapid GWAS	2017	rs56062135	T Audited	9.83e-07	0.01	variant: 15:67455630:C:T; nCompleteSamples: 83529; AC: 3.95546e+04; ytx: 9.32273e+03; se: 2.41162e-03; tstat: 4.89529e+00;
Doctor diagnosed asthma 2.14e-10 0.01 A	Doctor diagnosed asthma	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	2.14e-10	0.01	variant: 15:67441750:C:A; nCompleteSamples: 83529; AC: 3.95459e+04; ytx: 5.38187e+03; se: 1.91544e-03; tstat: 6.35170e+00;
Body fat percentage 1.29e-07 0.02 T	Body fat percentage	UK Biobank Rapid GWAS	2017	rs12900401	T Audited	1.29e-07	0.02	variant: 15:67486590:C:T; nCompleteSamples: 331117; AC: 3.44432e+04; ytx: 3.91897e+02; se: 4.20286e-03; tstat: 5.28032e+00;
Body fat percentage 3.07e-14 -0.02 T	Body fat percentage	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	3.07e-14	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 331117; AC: 1.63113e+05; ytx: -3.70659e+03; se: 2.17562e-03; tstat: -7.59586e+00;
Body fat percentage 8.66e-10 0.01 G	Body fat percentage	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	8.66e-10	0.01	variant: 15:67370389:A:G; nCompleteSamples: 331117; AC: 2.21744e+05; ytx: -5.78951e+02; se: 1.99096e-03; tstat: 6.13254e+00;
Whole body fat mass 1.95e-07 0.03 G	Whole body fat mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.95e-07	0.03	variant: 15:67457698:A:G; nCompleteSamples: 330762; AC: 3.82120e+04; ytx: 9.37290e+02; se: 5.06999e-03; tstat: 5.20386e+00;
Whole body fat mass 1.78e-12 -0.02 T	Whole body fat mass	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	1.78e-12	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 330762; AC: 1.62937e+05; ytx: -2.24124e+03; se: 2.76872e-03; tstat: -7.05123e+00;
Whole body fat mass 7.19e-09 0.01 G	Whole body fat mass	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	7.19e-09	0.01	variant: 15:67370389:A:G; nCompleteSamples: 330762; AC: 2.21533e+05; ytx: 2.35723e+03; se: 2.53355e-03; tstat: 5.78654e+00;
Whole body fat-free mass 1.20e-11 0.02 G	Whole body fat-free mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.20e-11	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331291; AC: 3.82650e+04; ytx: 1.97499e+03; se: 3.28619e-03; tstat: 6.78037e+00;
Whole body water mass 6.56e-11 0.02 G	Whole body water mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	6.56e-11	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331315; AC: 3.82680e+04; ytx: 1.93970e+03; se: 3.29106e-03; tstat: 6.53049e+00;
Basal metabolic rate 8.07e-12 0.02 G	Basal metabolic rate	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	8.07e-12	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331307; AC: 3.82670e+04; ytx: 1.95105e+03; se: 3.44571e-03; tstat: 6.83748e+00;
Impedance of whole body 9.99e-09 0.02 G	Impedance of whole body	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	9.99e-09	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331284; AC: 3.82660e+04; ytx: 1.26809e+02; se: 3.96259e-03; tstat: 5.73106e+00;
Impedance of whole body 4.97e-14 0.01 C	Impedance of whole body	UK Biobank Rapid GWAS	2017	rs8029398	C Audited	4.97e-14	0.01	variant: 15:67339055:T:C; nCompleteSamples: 331284; AC: 3.22351e+05; ytx: -2.06819e+03; se: 1.86377e-03; tstat: 7.53313e+00;
Impedance of whole body 1.27e-07 0.02 A	Impedance of whole body	UK Biobank Rapid GWAS	2017	rs61414048	A Audited	1.27e-07	0.02	variant: 15:67371929:G:A; nCompleteSamples: 331284; AC: 3.13977e+04; ytx: 2.86817e+02; se: 4.41296e-03; tstat: 5.28320e+00;
Impedance of leg (right) 7.08e-11 -0.01 C	Impedance of leg (right)	UK Biobank Rapid GWAS	2017	rs6494623	C Audited	7.08e-11	-0.01	variant: 15:67331006:T:C; nCompleteSamples: 331301; AC: 3.67709e+05; ytx: -5.44720e+03; se: 2.22141e-03; tstat: -6.51907e+00;
Impedance of leg (right) 5.36e-09 0.03 G	Impedance of leg (right)	UK Biobank Rapid GWAS	2017	rs16950556	G	5.36e-09	0.03	variant: 15:67373378:C:G; nCompleteSamples: 331301; AC: 3.18016e+04; ytx: 6.34395e+02; se: 5.19234e-03; tstat: 5.83585e+00;
Impedance of leg (left) 5.05e-10 -0.01 T	Impedance of leg (left)	UK Biobank Rapid GWAS	2017	rs6494624	T Audited	5.05e-10	-0.01	variant: 15:67337826:G:T; nCompleteSamples: 331296; AC: 3.39805e+05; ytx: -5.38431e+03; se: 2.23076e-03; tstat: -6.21759e+00;
Impedance of leg (left) 1.93e-07 0.03 A	Impedance of leg (left)	UK Biobank Rapid GWAS	2017	rs61414048	A Audited	1.93e-07	0.03	variant: 15:67371929:G:A; nCompleteSamples: 331296; AC: 3.13967e+04; ytx: 5.31611e+02; se: 5.27683e-03; tstat: 5.20628e+00;
Impedance of arm (right) 2.10e-11 0.02 G	Impedance of arm (right)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.10e-11	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331279; AC: 3.82650e+04; ytx: 1.93809e+00; se: 3.65441e-03; tstat: 6.69915e+00;
Impedance of arm (right) 3.10e-15 0.01 C	Impedance of arm (right)	UK Biobank Rapid GWAS	2017	rs1498507	C Audited	3.10e-15	0.01	variant: 15:67367706:A:C; nCompleteSamples: 331279; AC: 3.06185e+05; ytx: -3.18101e+03; se: 1.71179e-03; tstat: 7.88739e+00;
Impedance of arm (left) 4.54e-07 0.03 C	Impedance of arm (left)	UK Biobank Rapid GWAS	2017	rs143203469	C Audited	4.54e-07	0.03	variant: 15:67309893:T:C; nCompleteSamples: 331292; AC: 1.73485e+04; ytx: 3.54231e+02; se: 5.51198e-03; tstat: 5.04504e+00;
Impedance of arm (left) 1.06e-10 0.02 G	Impedance of arm (left)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.06e-10	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331292; AC: 3.82660e+04; ytx: 8.81846e+01; se: 3.66996e-03; tstat: 6.45780e+00;
Impedance of arm (left) 5.19e-14 0.01 C	Impedance of arm (left)	UK Biobank Rapid GWAS	2017	rs1498507	C Audited	5.19e-14	0.01	variant: 15:67367706:A:C; nCompleteSamples: 331292; AC: 3.06199e+05; ytx: -2.26329e+03; se: 1.71907e-03; tstat: 7.52740e+00;
Leg fat percentage (right) 9.57e-09 0.01 A	Leg fat percentage (right)	UK Biobank Rapid GWAS	2017	rs7166081	A Audited	9.57e-09	0.01	variant: 15:67492301:G:A; nCompleteSamples: 331296; AC: 5.08900e+05; ytx: -6.24273e+03; se: 1.82255e-03; tstat: 5.73835e+00;
Leg fat mass (right) 5.25e-09 0.01 A	Leg fat mass (right)	UK Biobank Rapid GWAS	2017	rs7166081	A Audited	5.25e-09	0.01	variant: 15:67492301:G:A; nCompleteSamples: 331293; AC: 5.08895e+05; ytx: -2.46017e+03; se: 2.30075e-03; tstat: 5.83915e+00;
Leg fat mass (right) 4.72e-07 0.01 C	Leg fat mass (right)	UK Biobank Rapid GWAS	2017	rs11629799	C Audited	4.72e-07	0.01	variant: 15:67381802:T:C; nCompleteSamples: 331293; AC: 3.40067e+05; ytx: -1.01799e+03; se: 1.94580e-03; tstat: 5.03734e+00;
Leg fat-free mass (right) 1.74e-09 0.02 G	Leg fat-free mass (right)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.74e-09	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331285; AC: 3.82660e+04; ytx: 1.69102e+03; se: 3.42053e-03; tstat: 6.02072e+00;
Leg predicted mass (right) 2.82e-09 0.02 G	Leg predicted mass (right)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.82e-09	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331285; AC: 3.82660e+04; ytx: 1.67484e+03; se: 3.39825e-03; tstat: 5.94181e+00;
Leg fat percentage (left) 6.01e-08 0.01 A	Leg fat percentage (left)	UK Biobank Rapid GWAS	2017	rs7166081	A Audited	6.01e-08	0.01	variant: 15:67492301:G:A; nCompleteSamples: 331278; AC: 5.08873e+05; ytx: -6.43366e+03; se: 1.79947e-03; tstat: 5.41853e+00;
Leg fat mass (left) 2.98e-08 -0.01 T	Leg fat mass (left)	UK Biobank Rapid GWAS	2017	rs12595334	T Audited	2.98e-08	-0.01	variant: 15:67485156:C:T; nCompleteSamples: 331275; AC: 1.49748e+05; ytx: -2.44437e+03; se: 2.30091e-03; tstat: -5.54251e+00;
Leg fat mass (left) 5.60e-07 0.01 A	Leg fat mass (left)	UK Biobank Rapid GWAS	2017	rs11634686	A Audited	5.60e-07	0.01	variant: 15:67382051:G:A; nCompleteSamples: 331275; AC: 3.39794e+05; ytx: -1.10893e+03; se: 1.92350e-03; tstat: 5.00479e+00;
Leg fat-free mass (left) 2.89e-10 0.02 G	Leg fat-free mass (left)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.89e-10	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331258; AC: 3.82610e+04; ytx: 1.74872e+03; se: 3.42191e-03; tstat: 6.30502e+00;
Leg predicted mass (left) 4.57e-10 0.02 G	Leg predicted mass (left)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	4.57e-10	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331253; AC: 3.82610e+04; ytx: 1.73645e+03; se: 3.39865e-03; tstat: 6.23325e+00;
Arm fat percentage (right) 2.50e-07 0.02 G	Arm fat percentage (right)	UK Biobank Rapid GWAS	2017	rs12904527	G Audited	2.50e-07	0.02	variant: 15:67471268:A:G; nCompleteSamples: 331249; AC: 3.36592e+04; ytx: 1.44678e+02; se: 4.22270e-03; tstat: 5.15801e+00;
Arm fat percentage (right) 2.81e-12 -0.02 T	Arm fat percentage (right)	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	2.81e-12	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 331249; AC: 1.63177e+05; ytx: -4.64432e+03; se: 2.15795e-03; tstat: -6.98732e+00;
Arm fat percentage (right) 2.15e-07 0.01 G	Arm fat percentage (right)	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	2.15e-07	0.01	variant: 15:67370389:A:G; nCompleteSamples: 331249; AC: 2.21840e+05; ytx: -2.36398e+03; se: 1.97480e-03; tstat: 5.18581e+00;
Arm fat mass (right) 2.31e-09 -0.02 T	Arm fat mass (right)	UK Biobank Rapid GWAS	2017	rs3825977	T Audited	2.31e-09	-0.02	variant: 15:67481248:C:T; nCompleteSamples: 331226; AC: 1.26032e+05; ytx: -2.49247e+03; se: 3.04970e-03; tstat: -5.97473e+00;
Arm fat-free mass (right) 4.71e-09 0.02 G	Arm fat-free mass (right)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	4.71e-09	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331221; AC: 3.82560e+04; ytx: 1.90374e+03; se: 3.23817e-03; tstat: 5.85724e+00;
Arm predicted mass (right) 2.94e-09 0.02 G	Arm predicted mass (right)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.94e-09	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331216; AC: 3.82550e+04; ytx: 1.91529e+03; se: 3.22669e-03; tstat: 5.93530e+00;
Arm fat percentage (left) 1.51e-07 0.02 G	Arm fat percentage (left)	UK Biobank Rapid GWAS	2017	rs12904527	G Audited	1.51e-07	0.02	variant: 15:67471268:A:G; nCompleteSamples: 331198; AC: 3.36582e+04; ytx: 1.79083e+02; se: 4.20296e-03; tstat: 5.25124e+00;
Arm fat percentage (left) 1.31e-11 -0.01 T	Arm fat percentage (left)	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	1.31e-11	-0.01	variant: 15:67476952:G:T; nCompleteSamples: 331198; AC: 1.63151e+05; ytx: -4.44969e+03; se: 2.14803e-03; tstat: -6.76784e+00;
Arm fat percentage (left) 8.37e-08 0.01 G	Arm fat percentage (left)	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	8.37e-08	0.01	variant: 15:67370389:A:G; nCompleteSamples: 331198; AC: 2.21805e+05; ytx: -2.16097e+03; se: 1.96568e-03; tstat: 5.35905e+00;
Arm fat mass (left) 1.72e-09 -0.02 T	Arm fat mass (left)	UK Biobank Rapid GWAS	2017	rs3825977	T Audited	1.72e-09	-0.02	variant: 15:67481248:C:T; nCompleteSamples: 331164; AC: 1.26007e+05; ytx: -2.42175e+03; se: 3.05057e-03; tstat: -6.02261e+00;
Arm fat-free mass (left) 1.28e-08 0.02 G	Arm fat-free mass (left)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.28e-08	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331159; AC: 3.82500e+04; ytx: 1.83452e+03; se: 3.30388e-03; tstat: 5.68826e+00;
Arm predicted mass (left) 3.21e-08 0.02 G	Arm predicted mass (left)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	3.21e-08	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331146; AC: 3.82490e+04; ytx: 1.80684e+03; se: 3.29152e-03; tstat: 5.52961e+00;
Trunk fat percentage 4.69e-08 0.03 T	Trunk fat percentage	UK Biobank Rapid GWAS	2017	rs12900401	T Audited	4.69e-08	0.03	variant: 15:67486590:C:T; nCompleteSamples: 331113; AC: 3.44436e+04; ytx: 7.43102e+02; se: 5.03822e-03; tstat: 5.46280e+00;
Trunk fat percentage 4.46e-07 0.02 G	Trunk fat percentage	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	4.46e-07	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331113; AC: 3.82430e+04; ytx: 5.72885e+02; se: 4.77644e-03; tstat: 5.04840e+00;
Trunk fat percentage 7.23e-16 -0.02 T	Trunk fat percentage	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	7.23e-16	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 331113; AC: 1.63111e+05; ytx: -3.48065e+03; se: 2.60822e-03; tstat: -8.06698e+00;
Trunk fat percentage 8.70e-12 0.02 G	Trunk fat percentage	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	8.70e-12	0.02	variant: 15:67370389:A:G; nCompleteSamples: 331113; AC: 2.21751e+05; ytx: 1.19378e+03; se: 2.38669e-03; tstat: 6.82682e+00;
Trunk fat mass 4.87e-07 0.03 T	Trunk fat mass	UK Biobank Rapid GWAS	2017	rs12900401	T Audited	4.87e-07	0.03	variant: 15:67486590:C:T; nCompleteSamples: 331093; AC: 3.44396e+04; ytx: 1.17119e+03; se: 5.51918e-03; tstat: 5.03145e+00;
Trunk fat mass 7.72e-11 0.03 G	Trunk fat mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	7.72e-11	0.03	variant: 15:67457698:A:G; nCompleteSamples: 331093; AC: 3.82400e+04; ytx: 1.56321e+03; se: 5.23216e-03; tstat: 6.50623e+00;
Trunk fat mass 1.18e-14 -0.02 T	Trunk fat mass	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	1.18e-14	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 331093; AC: 1.63105e+05; ytx: -1.57021e+03; se: 2.85712e-03; tstat: -7.71906e+00;
Trunk fat mass 3.29e-11 0.02 G	Trunk fat mass	UK Biobank Rapid GWAS	2017	rs12901071	G Audited	3.29e-11	0.02	variant: 15:67370389:A:G; nCompleteSamples: 331093; AC: 2.21732e+05; ytx: 4.20118e+03; se: 2.61448e-03; tstat: 6.63329e+00;
Trunk fat-free mass 1.63e-12 0.02 G	Trunk fat-free mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	1.63e-12	0.02	variant: 15:67457698:A:G; nCompleteSamples: 331030; AC: 3.82370e+04; ytx: 2.10740e+03; se: 3.27320e-03; tstat: 7.06344e+00;
Trunk predicted mass 2.02e-12 0.02 G	Trunk predicted mass	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.02e-12	0.02	variant: 15:67457698:A:G; nCompleteSamples: 330995; AC: 3.82360e+04; ytx: 2.09202e+03; se: 3.26243e-03; tstat: 7.03316e+00;
Wheeze or whistling in the chest in last year 5.67e-15 0.01 A	Wheeze or whistling in the chest in last year	UK Biobank Rapid GWAS	2017	rs56375023	A Audited	5.67e-15	0.01	variant: 15:67448363:G:A; nCompleteSamples: 331257; AC: 1.57072e+05; ytx: 3.35757e+04; se: 1.17012e-03; tstat: 7.81145e+00;
Wheeze or whistling in the chest in last year 1.91e-07 -0.01 T	Wheeze or whistling in the chest in last year	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	1.91e-07	-0.01	variant: 15:67476952:G:T; nCompleteSamples: 331257; AC: 1.63166e+05; ytx: 3.30157e+04; se: 1.16264e-03; tstat: -5.20832e+00;
Hair/balding pattern: Pattern 4 1.37e-07 0.01 T	Hair/balding pattern: Pattern 4	UK Biobank Rapid GWAS	2017	rs10152566	T Audited	1.37e-07	0.01	variant: 15:67475083:C:T; nCompleteSamples: 154988; AC: 9.04274e+04; ytx: 1.70761e+04; se: 1.53977e-03; tstat: 5.26909e+00;
Forced vital capacity (FVC) 1.28e-10 -0.01 G	Forced vital capacity (FVC)	UK Biobank Rapid GWAS	2017	rs7173826	G Audited	1.28e-10	-0.01	variant: 15:67528374:T:G; nCompleteSamples: 307638; AC: 2.00724e+05; ytx: 9.43923e+03; se: 2.10080e-03; tstat: -6.42942e+00;
Forced vital capacity (FVC) 2.22e-07 0.02 G	Forced vital capacity (FVC)	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.22e-07	0.02	variant: 15:67457698:A:G; nCompleteSamples: 307638; AC: 3.54300e+04; ytx: 2.83800e+03; se: 4.22394e-03; tstat: 5.17992e+00;
Length of menstrual cycle 4.80e-08 0.04 G	Length of menstrual cycle	UK Biobank Rapid GWAS	2017	rs11856909	G Audited	4.80e-08	0.04	variant: 15:67378033:A:G; nCompleteSamples: 30245; AC: 3.60647e+04; ytx: 4.79590e+04; se: 7.39517e-03; tstat: 5.45978e+00;
Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified 5.33e-08 0.01 T	Underlying (primary) cause of death: ICD10: I73.9 Peripheral vascular disease, unspecified	UK Biobank Rapid GWAS	2017	rs146320617	T	5.33e-08	0.01	variant: 15:67339963:A:T; nCompleteSamples: 7637; AC: 5.20153e+02; ytx: 3.38824e+00; se: 1.16991e-03; tstat: 5.44529e+00;
Underlying (primary) cause of death: ICD10: J47 Bronchiectasis 2.43e-08 0.02 G	Underlying (primary) cause of death: ICD10: J47 Bronchiectasis	UK Biobank Rapid GWAS	2017	rs143516956	G Audited	2.43e-08	0.02	variant: 15:67470587:A:G; nCompleteSamples: 7637; AC: 1.85529e+02; ytx: 4.69020e+00; se: 4.26400e-03; tstat: 5.58425e+00;
Underlying (primary) cause of death: ICD10: J69.0 Pneumonitis due to food and vomit 8.65e-08 0.01 T	Underlying (primary) cause of death: ICD10: J69.0 Pneumonitis due to food and vomit	UK Biobank Rapid GWAS	2017	rs79913183	T Audited	8.65e-08	0.01	variant: 15:67477569:C:T; nCompleteSamples: 7637; AC: 2.55000e+02; ytx: 3.00000e+00; se: 2.05124e-03; tstat: 5.35828e+00;
Underlying (primary) cause of death: ICD10: M06.9 Rheumatoid arthritis, unspecified 7.20e-07 0.01 C	Underlying (primary) cause of death: ICD10: M06.9 Rheumatoid arthritis, unspecified	UK Biobank Rapid GWAS	2017	rs56317520	C Audited	7.20e-07	0.01	variant: 15:67520066:T:C; nCompleteSamples: 7637; AC: 3.89000e+02; ytx: 4.00000e+00; se: 1.84269e-03; tstat: 4.96006e+00;
Underlying (primary) cause of death: ICD10: X59.0 Home 1.55e-08 0.01 A	Underlying (primary) cause of death: ICD10: X59.0 Home	UK Biobank Rapid GWAS	2017	rs114877444	A Audited	1.55e-08	0.01	variant: 15:67505585:G:A; nCompleteSamples: 7637; AC: 4.13282e+02; ytx: 3.97255e+00; se: 1.65680e-03; tstat: 5.66203e+00;
Heel bone mineral density (BMD) T-score, automated (left) 8.93e-10 0.03 G	Heel bone mineral density (BMD) T-score, automated (left)	UK Biobank Rapid GWAS	2017	rs4776341	G Audited	8.93e-10	0.03	variant: 15:67414911:T:G; nCompleteSamples: 106254; AC: 1.02975e+05; ytx: -1.63922e+03; se: 4.19183e-03; tstat: 6.12806e+00;
Heel bone mineral density (BMD) T-score, automated (left) 8.96e-07 0.02 G	Heel bone mineral density (BMD) T-score, automated (left)	UK Biobank Rapid GWAS	2017	rs6494625	G Audited	8.96e-07	0.02	variant: 15:67337890:A:G; nCompleteSamples: 106254; AC: 1.58798e+05; ytx: -3.70968e+03; se: 4.82186e-03; tstat: 4.91352e+00;
Heel bone mineral density (BMD) T-score, automated (right) 1.52e-09 0.03 G	Heel bone mineral density (BMD) T-score, automated (right)	UK Biobank Rapid GWAS	2017	rs4776341	G Audited	1.52e-09	0.03	variant: 15:67414911:T:G; nCompleteSamples: 106251; AC: 1.02971e+05; ytx: -1.46083e+03; se: 4.16508e-03; tstat: 6.04241e+00;
Waist circumference 2.13e-11 -0.02 T	Waist circumference	UK Biobank Rapid GWAS	2017	rs2289791	T Audited	2.13e-11	-0.02	variant: 15:67476952:G:T; nCompleteSamples: 336639; AC: 1.65783e+05; ytx: -1.82595e+03; se: 2.51353e-03; tstat: -6.69739e+00;
Hip circumference 2.10e-07 0.01 T	Hip circumference	UK Biobank Rapid GWAS	2017	rs55894213	T Audited	2.10e-07	0.01	variant: 15:67477450:C:T; nCompleteSamples: 336601; AC: 3.56471e+05; ytx: 4.83018e+03; se: 2.43862e-03; tstat: 5.19063e+00;
Hip circumference 2.45e-10 0.03 G	Hip circumference	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	2.45e-10	0.03	variant: 15:67457698:A:G; nCompleteSamples: 336601; AC: 3.88730e+04; ytx: 1.47658e+03; se: 5.14563e-03; tstat: 6.33012e+00;
Standing height 4.92e-67 0.06 G	Standing height	UK Biobank Rapid GWAS	2017	rs35874463	G Audited	4.92e-67	0.06	variant: 15:67457698:A:G; nCompleteSamples: 336474; AC: 3.88500e+04; ytx: 4.10112e+03; se: 3.69111e-03; tstat: 1.73012e+01;
Standing height 1.04e-12 -0.01 T	Standing height	UK Biobank Rapid GWAS	2017	rs11639295	T Audited	1.04e-12	-0.01	variant: 15:67460757:C:T; nCompleteSamples: 336474; AC: 1.97049e+05; ytx: 6.82270e+03; se: 1.89928e-03; tstat: -7.12585e+00;
Standing height 8.49e-12 -0.01 A	Standing height	UK Biobank Rapid GWAS	2017	rs266344	A Audited	8.49e-12	-0.01	variant: 15:67328626:C:A; nCompleteSamples: 336474; AC: 4.55196e+05; ytx: 1.82378e+04; se: 1.84715e-03; tstat: -6.83023e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above 5.61e-35 -0.02 A	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	5.61e-35	-0.02	variant: 15:67441750:C:A; nCompleteSamples: 336782; AC: 1.59618e+05; ytx: 1.06286e+05; se: 1.33826e-03; tstat: -1.23400e+01;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above 1.30e-14 0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above	UK Biobank Rapid GWAS	2017	rs10152595	G	1.30e-14	0.01	variant: 15:67475488:C:G; nCompleteSamples: 336782; AC: 1.67611e+05; ytx: 1.14970e+05; se: 1.32497e-03; tstat: 7.70646e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above 4.46e-11 -0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: None of the above	UK Biobank Rapid GWAS	2017	rs12592283	G Audited	4.46e-11	-0.01	variant: 15:67371420:T:G; nCompleteSamples: 336782; AC: 7.30385e+04; ytx: 4.87596e+04; se: 1.84717e-03; tstat: -6.58822e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma 1.52e-37 0.01 A	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	1.52e-37	0.01	variant: 15:67441750:C:A; nCompleteSamples: 336782; AC: 1.59618e+05; ytx: 1.98157e+04; se: 9.15309e-04; tstat: 1.28072e+01;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma 1.15e-14 -0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma	UK Biobank Rapid GWAS	2017	rs10152595	G	1.15e-14	-0.01	variant: 15:67475488:C:G; nCompleteSamples: 336782; AC: 1.67611e+05; ytx: 1.84512e+04; se: 9.06232e-04; tstat: -7.72172e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma 1.09e-12 0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Asthma	UK Biobank Rapid GWAS	2017	rs12592283	G Audited	1.09e-12	0.01	variant: 15:67371420:T:G; nCompleteSamples: 336782; AC: 7.30385e+04; ytx: 8.99015e+03; se: 1.26339e-03; tstat: 7.11908e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema 2.28e-21 0.01 A	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema	UK Biobank Rapid GWAS	2017	rs72743461	A Audited	2.28e-21	0.01	variant: 15:67441750:C:A; nCompleteSamples: 336782; AC: 1.59618e+05; ytx: 3.83347e+04; se: 1.20784e-03; tstat: 9.49207e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema 4.83e-07 -0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema	UK Biobank Rapid GWAS	2017	rs10152595	G	4.83e-07	-0.01	variant: 15:67475488:C:G; nCompleteSamples: 336782; AC: 1.67611e+05; ytx: 3.80514e+04; se: 1.19579e-03; tstat: -5.03285e+00;
Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema 5.66e-08 0.01 G	Blood clot, DVT, bronchitis, emphysema, asthma, rhinitis, eczema, allergy diagnosed by doctor: Hayfever, allergic rhinitis or eczema	UK Biobank Rapid GWAS	2017	rs12592283	G Audited	5.66e-08	0.01	variant: 15:67371420:T:G; nCompleteSamples: 336782; AC: 7.30385e+04; ytx: 1.75060e+04; se: 1.66704e-03; tstat: 5.42948e+00;
Pain type(s) experienced in last month: Back pain 1.76e-07 -0.01 T	Pain type(s) experienced in last month: Back pain	UK Biobank Rapid GWAS	2017	rs28613758	T Audited	1.76e-07	-0.01	variant: 15:67368659:C:T; nCompleteSamples: 336650; AC: 3.10985e+05; ytx: 7.78030e+04; se: 1.06289e-03; tstat: -5.22286e+00;
Heel bone mineral density (BMD) T-score, automated 1.77e-16 -0.03 T	Heel bone mineral density (BMD) T-score, automated	UK Biobank Rapid GWAS	2017	rs6494633	T Audited	1.77e-16	-0.03	variant: 15:67423306:C:T; nCompleteSamples: 194398; AC: 1.85105e+05; ytx: -4.31060e+03; se: 3.11437e-03; tstat: -8.23753e+00;
Allergy 4.00e-08 1.05	Allergy	Pickrell JK; Detection and interpretation of shared genetic influences on 42 human traits.	2016	rs17294280		4.00e-08	1.05
Asthma 2.00e-21 1.11	Asthma	Pickrell JK; Detection and interpretation of shared genetic influences on 42 human traits.	2016	rs56375023		2.00e-21	1.11
DZ twinning 6.29e-11 0.24	DZ twinning	Mbarek H; Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.	2016	rs17293443		6.29e-11	0.24
Myocardial infarction 1.00e-07 1.07 C	Myocardial infarction	Nikpay M; A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.	2015	rs72743461	C	1.00e-07	1.07
Pediatric autoimmune diseases 8.00e-11 G	Pediatric autoimmune diseases	Li YR; Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.	2015	rs72743477	G	8.00e-11
Ulcerative colitis 1.00e-07 1.08 A	Ulcerative colitis	Liu JZ; Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	2015	rs17293632	A	1.00e-07	1.08
Inflammatory bowel disease 3.00e-20 1.11 A	Inflammatory bowel disease	Liu JZ; Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	2015	rs17293632	A	3.00e-20	1.11
Crohn's disease (time to surgery) 4.00e-20 1.14 A	Crohn's disease (time to surgery)	Liu JZ; Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.	2015	rs17293632	A	4.00e-20	1.14
Coronary Artery Disease 5.00e-09 1.07 C	Coronary Artery Disease	Nikpay M; A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.	2015	rs56062135	C	5.00e-09	1.07
Waist circumference adjusted for body mass index 1.00e-08 A	Waist circumference adjusted for body mass index	Shungin D; New genetic loci link adipose and insulin biology to body fat distribution.	2015	rs7166081	A	1.00e-08
Waist circumference adjusted for body mass index 2.00e-09 A	Waist circumference adjusted for body mass index	Shungin D; New genetic loci link adipose and insulin biology to body fat distribution.	2015	rs7166081	A	2.00e-09
Asthma and hay fever 4.00e-09 1.18 G	Asthma and hay fever	Ferreira MA; Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.	2014	rs17294280	G	4.00e-09	1.18
Corneal structure 5.00e-10 T	Corneal structure	Lu Y; Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.	2013	rs12913547	T	5.00e-10
Self-reported allergy 1.00e-08 G	Self-reported allergy	Hinds DA; A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.	2013	rs17228058	G	1.00e-08
Inflammatory bowel disease 6.00e-16 1.07 T	Inflammatory bowel disease	Jostins L; Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.	2012	rs17293632	T	6.00e-16	1.07
Crohn's disease (time to surgery) 3.00e-19 1.12 T	Crohn's disease (time to surgery)	Franke A; Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.	2010	rs17293632	T	3.00e-19	1.12
Asthma 4.00e-09 1.12 G	Asthma	Moffatt MF; A large-scale, consortium-based genomewide association study of asthma.	2010	rs744910	G	4.00e-09	1.12
Coronary heart disease 2.00e-07 1.21 C	Coronary heart disease	Samani NJ; Genomewide association analysis of coronary artery disease.	2007	rs17228212	C	2.00e-07	1.21

Association Details

1st Author	Year	Journal/Site/File	Title/Description

pQTL Results

Display Name	Phenotype	Source	Year	Index Variant	Allele	Pvalue	OR/Beta	Credible Set	Show	Curator Comment

pQTL Details

1st Author	Year	Journal/Site/File	Title/Description

eQTL Results

Display Name	Tissue	Gene	Source	Year	Index Variant	Pvalue	Beta	Curator Comment
EQTL GTeX SMAD3 Esophagus Mucosa 2.07e-12	Esophagus Mucosa	SMAD3	GTEx Consortium	2015	rs28360855	2.07e-12	-0.40	Tissue pval threshold = 1.72e-05	0
EQTL GTeX AAGAB Artery Tibial 1.56e-06	Artery Tibial	AAGAB	GTEx Consortium	2015	rs7178966	1.56e-06	-0.23	Tissue pval threshold = 1.93e-05	0
EQTL GTeX SMAD3 Thyroid 4.82e-14	Thyroid	SMAD3	GTEx Consortium	2015	rs56062135	4.82e-14	-0.46	Tissue pval threshold = 1.86e-05	10
EQTL GTeX SMAD3 Muscle Skeletal 8.03e-13	Muscle Skeletal	SMAD3	GTEx Consortium	2015	rs11635145	8.03e-13	0.32	Tissue pval threshold = 1.27e-05	0
EQTL GTeX SMAD3 Cells Transformed fibroblasts 2.91e-07	Cells Transformed fibroblasts	SMAD3	GTEx Consortium	2015	rs11071933	2.91e-07	-0.22	Tissue pval threshold = 2.15e-05	0
EQTL GTeX SMAD3 Testis 4.09e-06	Testis	SMAD3	GTEx Consortium	2015	rs35841291	4.09e-06	0.24	Tissue pval threshold = 1.63e-05	0
EQTL GTeX AAGAB Esophagus Muscularis 1.67e-07	Esophagus Muscularis	AAGAB	GTEx Consortium	2015	rs8991	1.67e-07	-0.21	Tissue pval threshold = 2.06e-05	0
EQTL GTeX SMAD3 Skin Sun Exposed Lower leg 1.22e-05	Skin Sun Exposed Lower leg	SMAD3	GTEx Consortium	2015	rs12442353	1.22e-05	-0.20	Tissue pval threshold = 1.43e-05	0

Variants of Interest

Name	Non-Reference Allele	Location	Gene	Protein Change	Polyphen	f(NFE)	f(Max)
rs138550573	G	67,165,004	SMAD3	p.Met106Val	benign	0.000	0.002
rs35874463	G	67,165,360	SMAD3	p.Ile170Val	benign	0.043	0.053
rs202094530	A	67,170,582	SMAD3	p.Met212Ile	benign	0.000	0.007
rs755924969	G	67,181,247	SMAD3	p.Gln222Arg	benign	0.000	0.002
rs369410834	G	67,204,116	AAGAB	p.Ala250Pro	probably damaging	0.000	0.001
rs36096355	C	67,208,595	AAGAB	p.Asn228Asp	benign	0.000	0.021
rs189653983	G	67,208,619	AAGAB	p.Ser220Pro	benign	0.000	0.004
rs544916355	A	67,208,639	AAGAB	p.Ala213Val	benign	0.001	0.001
rs564806767	G	67,208,640	AAGAB	p.Ala213Pro	benign	0.001	0.001
rs774631504	C	67,231,823	AAGAB	p.Met176Val	benign	0.000	0.001
rs138601241	T	67,236,015	AAGAB	p.Val139Ile	probably damaging	0.001	0.001
rs7173826	G	67,236,036	AAGAB	p.Ile132Leu	benign	0.322	0.688
rs371926366	T	67,236,426	AAGAB	p.Asp115Asn	benign	0.000	0.001
rs186662479	T	67,236,440	AAGAB	p.Met110Lys	benign	0.009	0.009
rs148784657	C	67,236,718	AAGAB	p.Asn59Ser	benign	0.000	0.001
rs199616452	C	67,236,733	AAGAB	p.Tyr54Cys	probably damaging	0.000	0.001
rs373106011	C	67,236,778	AAGAB	p.Asn39Ser	benign	0.000	0.002
rs200477258	T	67,236,794	AAGAB	p.Val34Met	benign	0.000	0.007

Functional Variants Details

1st Author	Year	Journal/Site/File	Title/Description

Expression Data Details

1st Author	Year	Journal/Site/File	Title/Description
GTEx Consortium	2015	Science	Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
SMAD3 GTEx V7 Median Expression
AC087482.1 GTEx V7 Median Expression
AC012568.1 GTEx V7 Median Expression
AAGAB GTEx V7 Median Expression
RPS24P16 GTEx V7 Median Expression

Protein and Structure Chemistry Details

1st Author	Year	Journal/Site/File	Title/Description

Clinical Results

Phenotype/Gene Associations

Phenotype	Gene	Source
A colorectal adenocarcinoma sample	SMAD3	Cancer Gene Census
A colorectal adenocarcinoma sample	SMAD3	Cancer Gene Census
A pancreatic ductal adenocarcinoma sample	SMAD3	Cancer Gene Census
Basal cell carcinoma	SMAD3	Cancer Gene Census
Breast carcinoma	SMAD3	Cancer Gene Census
Cutaneous melanoma	SMAD3	Cancer Gene Census
Esophageal Squamous Cell Carcinoma	SMAD3	Cancer Gene Census
Esophageal adenocarcinoma	SMAD3	Cancer Gene Census
Gastric adenocarcinoma (histologically verified)	SMAD3	Cancer Gene Census
Hepatocellular Carcinoma	SMAD3	Cancer Gene Census
LOEYS-DIETZ SYNDROME 3	SMAD3	MIM morbid
Lung adenocarcinoma	SMAD3	Cancer Gene Census
Melanoma	SMAD3	Cancer Gene Census
Pancreatic Neoplasms	SMAD3	Cancer Gene Census
bladder carcinoma	SMAD3	Cancer Gene Census
bladder transitional cell carcinoma	SMAD3	Cancer Gene Census
breast ductal adenocarcinoma	SMAD3	Cancer Gene Census
colonic neoplasm	SMAD3	Cancer Gene Census
gastric intestinal type adenocarcinoma	SMAD3	Cancer Gene Census
oral cavity cancer	SMAD3	Cancer Gene Census
oral squamous cell carcinoma	SMAD3	Cancer Gene Census
prostate adenocarcinoma	SMAD3	Cancer Gene Census
pseudomyxoma peritonei	SMAD3	Cancer Gene Census
squamous cell lung carcinoma	SMAD3	Cancer Gene Census

Phenotype/Allele Associations

Phenotype	Variant	Unaudited Risk Allele	Clinical Signficance	Transcript-Impact Genes	Source
Aneurysm	rs1057518977	T	likely pathogenic	SMAD3	ClinVar
Cutaneous polyarteritis nodosa	rs730880216	A	uncertain significance	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906852	A	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906850	0001		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906850	T	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs587776880	0002		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs587776882	0008		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906855	0009		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906856	T	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs587776880		pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906851	T	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs886041046	T	uncertain significance	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906854	0007		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906856	0010		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906853	0006		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs587776881		pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906855	T	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906851	0003		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906852	0005		SMAD3	OMIM
LOEYS-DIETZ SYNDROME 3	rs387906854	T	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs587776882		pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs375574124	A	uncertain significance	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs387906853	A	pathogenic	SMAD3	ClinVar
LOEYS-DIETZ SYNDROME 3	rs587776881	0004		SMAD3	OMIM
Loeys-Dietz syndrome	rs144205938	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051423	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051395	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051387	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs145102966	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs79368607	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs62014609	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051377	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051421	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs138327222	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051430	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs36221703	T	benign	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs144245324	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051410	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs369386357	CCT	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051398	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs730880213	C	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs187952791	A	likely benign	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs950511378	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs186841203	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs183913368	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs769408016	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs549152312	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs755985886	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs1065080	G	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051383	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs150994304	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051425	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051420	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs117707762	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051381	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051402	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs369221296	G	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs117185005	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs569581429	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051380	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs1061427	A	benign	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs191679355	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051389	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051391	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051392	G	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs144374592	T	benign	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051418	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051429	G	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051406	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051416	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs78329172	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051397	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs139616052	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051385	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051418	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051390	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051431	T	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs140694679	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051376	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs906791468	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs150600147	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051432	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs769408016	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051408	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051386	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs2278670	T	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051428		uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051373	G	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051409	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051434	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs191114875	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs11638476	A	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs548318946	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs773629535	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs564556206	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs35874463	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs55970514	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051379	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs730880215	A	likely pathogenic	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051399	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051435	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs145380987	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs12595334	T	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs188412401	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051413	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs757106110	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs556470157	T	likely benign	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051378	C	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051394	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs202094530	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051422	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051403	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051424	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs8025774	T	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051411	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs139620908	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs146287966	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs368655036	C	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs761162475	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051427	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs8031627	A	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051396	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051426	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs764656928	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs550707472		likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051393	G	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051417	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051372	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs565932125	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051405		uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs567052377	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs3743342	T	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs730880214	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051388	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051433	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051407	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs145645018	G	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051374	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051415	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs72661159	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs201912204	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs754034578	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs533635017	C	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051414	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs530788405	A	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051404	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs587782977	A	likely pathogenic	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051384	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs913822437	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051412	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051419	A	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs1008630676	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051435	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs72661160	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051401	G	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051375	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051382	T	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs72661161	T	likely benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs8031440	A	benign	SMAD3	ClinVar
Loeys-Dietz syndrome	rs886051400	G	uncertain significance	SMAD3	ClinVar
Loeys-Dietz syndrome	rs571689385	G	likely benign	SMAD3	ClinVar
Palmoplantar keratoderma	rs1057518846	A	likely pathogenic	AAGAB, RPS24P16	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051376	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs11638476	A	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs764656928	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886039050	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051426	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs146287966	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051396	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs8025774	T	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs117707762	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038770	C	likely pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs139620908	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs144245324	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051421	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051427	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051401	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051411	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223765	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051417	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs755354518	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051433	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs771802144	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051404	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051418	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs138550573	G	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051381	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1065080	G	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051435	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051420	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs913822437	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051435	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051415	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051403	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs530788405	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs769408016	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs35874463	G	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs188412401	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500771	T	likely pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs533635017	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs755985886	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs2278670	T	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs550707472		likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs117185005	T	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs72661161	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs548318946	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs754034578	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs72661160	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs549152312	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886039210	A	likely benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs140880290	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs79368607	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs906791468	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886039137	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051407	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038836	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs3743342	T	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038899	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs878854814	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs140694679	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051373	G	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500768	C	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs758586312	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1061427	A	benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs762612490	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051383	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs138940179	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs145102966	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038803	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223766	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051385	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051413	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886039177	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs183913368	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs750707381	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051419	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500765	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051391	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051382	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs753486471	A	pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs186841203	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051399	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs200998367	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051400	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038971	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs950511378	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223737	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051412	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs369386357	CCT	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs144205938	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051378	C	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051390	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051406	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051389	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051423	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs150994304	A	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051430	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051386	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1065080	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051375	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs201912204	A	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs144374592	T	benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs149443777	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223735	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs139616052	A	conflicting interpretations of pathogenicity	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051408	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs144667334	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051392	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051380	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs368655036	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051388	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs12595334	T	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs138327222	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs145380987	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs370620091	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs772995932	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038991	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs8031627	A	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1008630676	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051372	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038961	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs78329172	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs556470157	T	likely benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500772	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs8031440	A	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051395	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs567052377	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051432	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500766	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs774814963	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs370879516	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs773629535	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs72661159	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051398	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051394	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs145645018	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs149022137	T	likely benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051397	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs191114875	C	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051410	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051431	T	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051425	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs768713596	T	pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051377	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051416	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs565932125	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223739	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs761162475	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223740	A	likely pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051414	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs36221703	T	benign	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051374	A	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs757106110	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500764	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs863223754	C	pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051418	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs191679355	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051409	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051429	G	benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500773		pathogenic	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs1060500767	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051424	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886038771	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs769408016	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051384	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs369221296	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051379	T	uncertain significance	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051405		uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051393	G	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs187952791	A	conflicting interpretations of pathogenicity	AC087482.1, SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051428		uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs571689385	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051434	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051387	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs564556206	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051422	C	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs587782977	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs759140708	T	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs569581429	G	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs886051402	T	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs55970514	A	likely benign	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs62014609	A	uncertain significance	SMAD3	ClinVar
Thoracic aortic aneurysm and aortic dissection	rs150600147	G	likely benign	SMAD3	ClinVar

Clinical Data Details

1st Author	Year	Journal/Site/File	Title/Description

References (22 out of 22 not yet reviewed)

Reviewed	1st Author	Year	Journal/Site/File	Title/Description
		2018	http://big.stats.ox.ac.uk	UKBB - Neale Lab Analysis

		2018	http://results.finngen.fi	FinnGen freeze 1

	Wain LV	2017	Nat. Genet.	Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

	de Lange KM	2017	Nat. Genet.	Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

	Gudmundsson J	2017	Nat Commun	A genome-wide association study yields five novel thyroid cancer risk loci.

	Huang H	2017	Nature	Fine-mapping inflammatory bowel disease loci to single-variant resolution.

		2017	http://www.nealelab.is/blog/2017/7/19/rapid-gwas-of-thousands-of-phenotypes-for-337000-samples-in-the-uk-biobank	UK Biobank Rapid GWAS

	Pickrell JK	2016	Nat. Genet.	Detection and interpretation of shared genetic influences on 42 human traits.

	Mbarek H	2016	Twin Res Hum Genet	Two SNPs Associated With Spontaneous Dizygotic Twinning: Effect Sizes and How We Communicate Them.

	Mbarek H	2016	Am. J. Hum. Genet.	Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.

	Nikpay M	2015	Nat. Genet.	A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

	Li YR	2015	Nat. Med.	Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

	Liu JZ	2015	Nat. Genet.	Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

	Shungin D	2015	Nature	New genetic loci link adipose and insulin biology to body fat distribution.

	GTEx Consortium	2015	Science	Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.
Section Assignment SMAD3 GTEx V7 Median Expression
Section Assignment AC087482.1 GTEx V7 Median Expression
Section Assignment AC012568.1 GTEx V7 Median Expression
Section Assignment AAGAB GTEx V7 Median Expression
Section Assignment RPS24P16 GTEx V7 Median Expression

	Ferreira MA	2014	J. Allergy Clin. Immunol.	Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.

	Lu Y	2013	Nat. Genet.	Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

	Hinds DA	2013	Nat. Genet.	A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

	Jostins L	2012	Nature	Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

	Franke A	2010	Nat. Genet.	Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

	Moffatt MF	2010	N. Engl. J. Med.	A large-scale, consortium-based genomewide association study of asthma.

	Samani NJ	2007	N. Engl. J. Med.	Genomewide association analysis of coronary artery disease.