rs2230028, ABCB4

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cholesterol gallstones
CUI: C0856727
Disease: Cholesterol gallstones
0.010 GeneticVariation BEFREE In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. 20163776 2010
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.010 GeneticVariation BEFREE In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. 20163776 2010
Cholestasis of pregnancy
CUI: C0268318
Disease: Cholestasis of pregnancy
0.010 GeneticVariation BEFREE The chromosomal frequency of the p.Arg652Gly variant did not differ between the ICP and control group (p = 0.40). 19584064 2009
Cholestasis
CUI: C0008370
Disease: Cholestasis
0.010 GeneticVariation BEFREE MDR3 R652G is negatively correlated with idiopathic infant cholestasis. 19998509 2009
Intrahepatic Cholestasis
CUI: C0008372
Disease: Intrahepatic Cholestasis
0.010 GeneticVariation BEFREE Children with the R652G SNP in Guangxi of China may have reduced susceptibility to infant intrahepatic cholestasis. 19998509 2009