Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs887829
rs887829
0.810 GeneticVariation BEFREE Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 of SLCO1B1 and rs4149000 of SLCO1A2 in combination with rs8175347 and rs887829 of UGT1A1 in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians. 26146896

2016

dbSNP: rs887829
rs887829
A 0.810 GeneticVariation GWASCAT A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. 22558097

2012

dbSNP: rs887829
rs887829
A 0.810 GeneticVariation GWASDB A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. 22558097

2012

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE In retrospective controlled study, we determined D19H polymorphism of ABCG8 gene, genetic variation at Niemann-Pick C1-like 1 (NPC1L1) gene locus (rs41279633, rs17655652, rs2072183, rs217434 and rs2073548), and serum cholesterol, noncholesterol sterols and lipids in children affected by gallstones decades later (n = 66) and controls (n = 126). 29764733

2018

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Among individuals of African American and Hispanic American ancestry, rs11887534 and rs4245791 were associated positively with gallstone disease risk, whereas the association for the rs1260326 variant was inverse. 27094239

2016

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Our study showed strong association of D19H polymorphism with gallstone disease. 24498041

2014

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members). 24914347

2014

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption. 23406058

2013

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent. 24256507

2013

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication. 22869156

2013

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs118</span>87534 had higher risk of bi</span>liary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype. 21062971

2011

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE In this general population cohort, ABCG8 D19H genotype was an important predictor of both symptomatic gallstone disease and biliary cancer. 21274884

2011

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Carriers of the DH genotype and H allele of the ABCG8 D19H polymorphism harbor a higher risk for gallstone susceptibility in the northern Indian population. 21039838

2010

dbSNP: rs11887534
rs11887534
0.800 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

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Our study confirms the ABCG8 D19H genotype as a major risk factor for gallstone disease. 20497293

2010

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE A common genetic polymorphism D19H of ABCG8 associated with gallstone disease may be causatively related to the genetic predisposition of GBC. 19018975

2009

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Carriers of ABCG5 604Q or ABCG8 D19H polymorphisms have an increased risk of gallstone disease independent of age, sex and body mass index. 18457353

2008

dbSNP: rs11887534
rs11887534
C 0.800 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509

2007

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026). 17626266

2007

dbSNP: rs11887534
rs11887534
0.800 GeneticVariation BEFREE To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS). 17612515

2007

dbSNP: rs4245791
rs4245791
0.710 GeneticVariation BEFREE Among individuals of African American and Hispanic American ancestry, rs11887534 and rs4245791 were associated positively with gallstone disease risk, whereas the association for the rs1260326 variant was inverse. 27094239

2016

dbSNP: rs4245791
rs4245791
0.710 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509

2007

dbSNP: rs10094715
rs10094715
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509

2007

dbSNP: rs1011770
rs1011770
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509

2007

dbSNP: rs10888095
rs10888095
0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509

2007