Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.030 GeneticVariation BEFREE T400K and Y54C polymorphism, though to a less extent, may also relate with gallstone disease. 24498041

2014
dbSNP: rs4148211
rs4148211
ABCG8 ; LOC102725159
CUI: C0008350
Disease: Cholelithiasis
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: rs4148211
rs4148211
ABCG8 ; LOC102725159
CUI: C0008350
Disease: Cholelithiasis
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