Disease: Cholestasis ×
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: C0008370
Disease:
Cholestasis 		0.010 GeneticVariation BEFREE Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. 21633855 2012