rs113090017, NR1H4

N. diseases: 4
Disease: Cholestasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholestasis
CUI: C0008370
Disease: Cholestasis
0.010 GeneticVariation BEFREE Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. 21633855 2012