Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1250550
rs1250550
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
G 0.820 GeneticVariation GWASCAT Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. 21102463

2010

dbSNP: rs1250550
rs1250550
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.820 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs12571751
rs12571751
Diabetes Mellitus, Non-Insulin-Dependent
A 0.810 GeneticVariation GWASCAT Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. 22885922

2012

dbSNP: rs12571751
rs12571751
Diabetes Mellitus, Non-Insulin-Dependent
G 0.810 GeneticVariation GWASCAT Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590

2017

dbSNP: rs12571751
rs12571751
Diabetes Mellitus, Non-Insulin-Dependent
A 0.810 GeneticVariation GWASCAT Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. 24509480

2014

dbSNP: rs1250550
rs1250550
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.810 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908

2017

dbSNP: rs1250550
rs1250550
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.810 GeneticVariation GWASCAT We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). 19915574

2009

dbSNP: rs1250544
rs1250544
CUI: C0033860
Disease: Psoriasis
Psoriasis
G 0.810 GeneticVariation GWASCAT Three of the shared loci are also genome-wide significantly associated with PS alone (10q22 at ZMIZ1, p(rs1250544) = 3.53 × 10(-8), 11q13 near PRDX5, p(rs694739) = 3.71 × 10(-09), 22q11 at YDJC, p(rs181359) = 8.02 × 10(-10)). 22482804

2012

dbSNP: rs1250552
rs1250552
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
A 0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235

2011

dbSNP: rs1250552
rs1250552
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
0.800 GeneticVariation GWASCAT Multiple common variants for celiac disease influencing immune gene expression. 20190752

2010

dbSNP: rs1250550
rs1250550
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.800 GeneticVariation GWASCAT Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. 31407831

2019

dbSNP: rs1250550
rs1250550
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
A 0.800 GeneticVariation GWASCAT Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088

2011

dbSNP: rs1250546
rs1250546
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
A 0.800 GeneticVariation GWASCAT Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 23128233

2012

dbSNP: rs1250546
rs1250546
CUI: C0033860
Disease: Psoriasis
Psoriasis
A 0.800 GeneticVariation GWASCAT Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594

2012

dbSNP: rs1250542
rs1250542
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
A 0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364

2011

dbSNP: rs11593576
rs11593576
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.800 GeneticVariation GWASCAT Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339

2010

dbSNP: rs704010
rs704010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.720 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683

2017

dbSNP: rs704010
rs704010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
A 0.720 GeneticVariation GWASCAT Genome-wide association study identifies five new breast cancer susceptibility loci. 20453838

2010

dbSNP: rs704010
rs704010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.720 GeneticVariation GWASCAT Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs704010
rs704010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
T 0.720 GeneticVariation GWASCAT Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 25751625

2015

dbSNP: rs1250569
rs1250569
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
T 0.720 GeneticVariation GWASCAT We confirmed 6 previously reported loci in Caucasian: GPR35 at 2q37 (rs3749172; P = 5.30 × 10, odds ratio [OR] = 1.45), ZNF365 at 10q21 (rs224143; P = 2.20 × 10, OR = 1.38), ZMIZ1 at 10q22 (rs1250569; P = 3.05 × 10, OR = 1.30), NKX2-3 at 10q24 (rs4409764; P = 7.93 × 10, OR = 1.32), PTPN2 at 18p11 (rs514000; P = 9.00 × 10, OR = 1.33), and USP25 at 21q11 (rs2823256; P = 2.49 × 10, OR = 1.35), bringing the number of known CD loci (including 3 in the HLA) in Koreans to 15. 25489960

2015

dbSNP: rs7916441
rs7916441
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs7916441
rs7916441
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs7916441
rs7916441
CUI: C0005890
Disease: Body Height
Body Height
0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960

2010

dbSNP: rs7914926
rs7914926
CUI: C0042834
Disease: Vital capacity
Vital capacity
G 0.700 GeneticVariation GWASCAT Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets. 28166213

2017