Disease: Cholelithiasis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2109505
rs2109505
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0008350
Disease:
Cholelithiasis 		0.010 GeneticVariation BEFREE Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer. 26410236 2015