Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113090017
rs113090017
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C4310747
Disease:
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255644
rs879255644
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C4310747
Disease:
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 		TAAA 0.700 CausalMutation CLINVAR