Disease: Cholelithiasis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6720173
rs6720173
Entrez Id: 51626;64240
Gene Symbol: DYNC2LI1;ABCG5
DYNC2LI1;ABCG5
CUI: C0008350
Disease:
Cholelithiasis 		0.030 GeneticVariation BEFREE We also found a trend for a positive association between gallstone disease and the Q604E variant (OR, 1.47; 95% CI, 1.00-2.16; P = 0.052). 20497293 2010
dbSNP: rs6720173
rs6720173
Entrez Id: 51626;64240
Gene Symbol: DYNC2LI1;ABCG5
DYNC2LI1;ABCG5
CUI: C0008350
Disease:
Cholelithiasis 		0.030 GeneticVariation BEFREE Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones. 18522623 2008
dbSNP: rs6720173
rs6720173
Entrez Id: 51626;64240
Gene Symbol: DYNC2LI1;ABCG5
DYNC2LI1;ABCG5
CUI: C0008350
Disease:
Cholelithiasis 		0.030 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