Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75061399
rs75061399
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs113090017
rs113090017
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder)
T 0.700 CausalMutation CLINVAR Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 26888176 2016
dbSNP: rs879255644
rs879255644
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder)
TAAA 0.700 CausalMutation CLINVAR Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 26888176 2016
dbSNP: rs113090017
rs113090017
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0268312
Disease:
Progressive intrahepatic cholestasis (disorder)
T 0.700 CausalMutation CLINVAR A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis. 21633855 2012
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
dbSNP: rs35724
rs35724
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0860197
Disease:
Advanced chronic liver disease
0.010 GeneticVariation BEFREE The FXR-SNP rs35724 was associated with a reduced risk for development of ascites and liver-related mortality in patients with advanced chronic liver disease. 31062417 2019
dbSNP: rs35724
rs35724
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE In contrast, n = 267 (66.4%) patients harbored minor rs35724 allele (G/C or C/C) and had more advanced liver disease, as indicated by a higher model of end-stage liver disease (11 ± 4 vs 10 ± 3, P = 0.016), while other baseline characteristics were similar across FXR-SNP genotypes. 31062417 2019
dbSNP: rs56163822
rs56163822
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE Only 19 patients (4.7%) harbored a rs56163822 T-allele and had less pronounced liver disease as indicated by lower Child-Pugh score (CPS, 6 ± 1 vs 7 ± 2 points, P = 0.034) and higher albumin levels (38.9 ± 4.9 vs 35.9 ± 5.9 g/L, P = 0.026). 31062417 2019
dbSNP: rs35724
rs35724
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0008350
Disease:
Cholelithiasis
0.010 GeneticVariation BEFREE Three FXR gene variants (rs35724, rs11110385, rs11110386) were identified as potential susceptibility factors for cholelithiasis in a German cohort in gender- and weight-dependent manners. 25242139 2015
dbSNP: rs56163822
rs56163822
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0275551
Disease:
Primary bacterial peritonitis
0.010 GeneticVariation BEFREE The farnesoid X receptor rs56163822 GT genotype increases the risk for spontaneous bacterial peritonitis in cirrhotic patients with ascites. 25086996 2014
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
dbSNP: rs113090017
rs113090017
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0003962
Disease:
Ascites
0.010 GeneticVariation BEFREE The patient with mutation R176X had high levels of bilirubin, alanine aminotransferase, γ-glutamyltransferase, cirrhosis and ascites despite biliary tract flushing procedures and drug therapy. 21633855 2012
dbSNP: rs61755050
rs61755050
Entrez Id: 9971
Gene Symbol: NR1H4
NR1H4
CUI: C0268318
Disease:
Cholestasis of pregnancy
0.010 GeneticVariation BEFREE M173T and -1g>t occur both in Caucasian cases and controls, and we found a significant association of M173T with ICP (OR, 3.2; 95% confidence interval, 1.1-11.2; P = .02) when the allele frequencies of both Caucasian cohorts were analyzed together. 17681172 2007