rs3197999, MST1;APEH

N. diseases: 16
Disease: Primary sclerosing cholangitis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.720 GeneticVariation GWASDB Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 23603763 2013
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.720 GeneticVariation BEFREE Homozygous rs3197999 [AA] carrier status significantly increased overall (OR = 1.97; p = 0.023) and primary sclerosing cholangitis-unrelated biliary tract cancer risk (OR = 1.84; p = 0.044), relative to homozygous common allele carriers. 23422030 2013
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.720 GeneticVariation BEFREE Therefore, the gain of function observed with rs3197999 in MST1 might provide a cellular mechanism for the consistent association of this polymorphism with an increased risk for IBD and PSC. 22237417 2012
Primary sclerosing cholangitis
CUI: C0566602
Disease: Primary sclerosing cholangitis
0.720 GeneticVariation GWASDB Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127 2011