rs11887534, ABCG5;ABCG8

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GALLBLADDER DISEASE 4
CUI: C1969115
Disease: GALLBLADDER DISEASE 4
0.700 CausalMutation CLINVAR
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE D19H was found to be significantly associated with gallstones (odds ratio [OR] = 2.9, P = 0.0220, 95% confidence interval [CI]:1.22-6.89), particularly in the overweight cohort (OR = 3.2, P = 0.0430, 95% CI:1.07-9.26). 23406058 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
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
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Biliary calculi
CUI: C0242216
Disease: Biliary calculi
0.700 GeneticVariation GWASCAT A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Cholecystolithiasis
CUI: C0947622
Disease: Cholecystolithiasis
0.800 GeneticVariation BEFREE ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication. 22869156 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication. 22869156 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
C-reactive protein measurement
CUI: C0201657
Disease: C-reactive protein measurement
0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
0.800 GeneticVariation BEFREE Both gallstone disease and p.D19H of ABCG8 are associated with diminished cholesterol absorption. 23406058 2013
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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
Gallbladder Carcinoma
CUI: C0235782
Disease: Gallbladder Carcinoma
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Stage IIB Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Stage 0 Gallbladder Cancer AJCC v8
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Stage IIA Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Stage III Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Stage IV Gallbladder Cancer AJCC v8
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Cholangiocarcinoma
CUI: C0206698
Disease: Cholangiocarcinoma
0.010 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Bile duct carcinoma
CUI: C0740277
Disease: Bile duct carcinoma
0.010 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Malignant neoplasm of gallbladder
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
0.020 GeneticVariation BEFREE Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary 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
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
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