Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886043118
rs886043118
A 0.700 CausalMutation CLINVAR A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 27117246

2018

dbSNP: rs886043118
rs886043118
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

dbSNP: rs1568793309
rs1568793309
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
G 0.700 GeneticVariation CLINVAR

dbSNP: rs757075712
rs757075712
T 0.700 GeneticVariation CLINVAR

dbSNP: rs2287622
rs2287622
0.030 GeneticVariation BEFREE A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired cholestasis and recent evidence suggests that the same variant also influences the therapeutic response and disease progression of viral hepatitis C. Studies in large independent cohorts are now needed to confirm the relevance of p.V444A. 21320040

2011

dbSNP: rs2287622
rs2287622
0.030 GeneticVariation BEFREE Our data support a role for the ABCB11 1331T>C polymorphism as a susceptibility factor for the development of estrogen-induced cholestasis, whereas no such association was found for ABCC2. 18176959

2008

dbSNP: rs2287622
rs2287622
0.030 GeneticVariation BEFREE Furthermore, a polymorphism in exon 13 of ABCB11 (V444A), which is associated with decreased hepatic BSEP expression was significantly more frequent in drug-induced cholestasis patients than in drug-induced hepatocellular injury patients and healthy controls (76 versus 50 and 59% in drug-induced cholestasis patients, drug-induced hepatocellular injury patients and healthy controls, respectively; P<0.05). 17264802

2007

dbSNP: rs121908106
rs121908106
0.010 GeneticVariation BEFREE We demonstrate that the cholestasis-associated P660L mutation in myoVb caused the intracellular accumulation of bile canalicular proteins in vesicular compartments. 31750554

2019

dbSNP: rs1007211
rs1007211
0.010 GeneticVariation BEFREE Estradiol-17β-D-glucuronide (E17G), through the activation of different signaling proteins, induces acute endocytic internalization of canalicular transporters in rat, including multidrug resistance-associated protein 2 (Abcc2) and bile salt export pump (Abcb11), generating cholestasis. 29090346

2018

dbSNP: rs1310517469
rs1310517469
0.010 GeneticVariation BEFREE Six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11: p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1: p.Glu391Lys) and two known pathogenic mutations were detected proving our multi gene panel for infantile cholestasis to be a sensitive and specific method overcoming the complexity of the phenotype-based, candidate gene approach. 25771912

2015

dbSNP: rs61750420
rs61750420
0.010 GeneticVariation BEFREE We show that Pex1-G844D homozygous mice recapitulate many classic features of mild ZSD cases, including growth retardation and fatty livers with cholestasis. 24503136

2014

dbSNP: rs72552778
rs72552778
0.010 GeneticVariation BEFREE ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping point between more benign and potentially fatal cholestasis and makes these patients more acutely sensitive to environmental effects. 24806754

2014

dbSNP: rs113090017
rs113090017
0.010 GeneticVariation BEFREE Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. 21633855

2012

dbSNP: rs2230028
rs2230028
0.010 GeneticVariation BEFREE MDR3 R652G is negatively correlated with idiopathic infant cholestasis. 19998509

2009

dbSNP: rs1799971
rs1799971
0.010 GeneticVariation BEFREE The possibility of protection from pruritus associated with A118G supports the study of genetic polymorphisms of the OPRM1 gene in patients with cholestasis. 18709298

2008

dbSNP: rs28937590
rs28937590
0.010 GeneticVariation BEFREE A homozygous point mutation (232A-->G) has been found as the genetic etiology for fetal growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (GRACILE) syndrome (MIM 603358). 18386115

2008

dbSNP: rs1214110864
rs1214110864
0.010 GeneticVariation BEFREE Four highly conserved nonsynonymous mutations were specific for drug-induced liver injury [ABCB11: D676Y (drug-induced cholestasis) and G855R (drug-induced cholestasis); ABCB4: I764L (drug-induced cholestasis) and L1082Q (drug-induced hepatocellular injury)]. 17264802

2007