Source: GWASCAT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4246905
rs4246905
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis
T 0.700 GeneticVariation GWASCAT Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. 26301688

2015

dbSNP: rs7848647
rs7848647
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.840 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs6478109
rs6478109
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
G 0.830 GeneticVariation GWASCAT HLA-C*01 is a Risk Factor for Crohn's Disease. 26891255

2016

dbSNP: rs7848647
rs7848647
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.730 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs7848647
rs7848647
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.710 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs7848647
rs7848647
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs7848647
rs7848647
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

dbSNP: rs4979462
rs4979462
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
C 0.830 GeneticVariation GWASCAT A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC. 28062665

2017

dbSNP: rs4979462
rs4979462
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.830 GeneticVariation GWASCAT POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. 30643196

2019