ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Hyperlipidemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066714
rs2066714
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0020473
Disease:
Hyperlipidemia 		0.010 GeneticVariation BEFREE We conducted a cross-sectional study to investigate the effects of the adenosine triphosphate-binding cassette transporter 1 (ABCA1) I883M and lipoprotein lipase (LPL) HindIII polymorphisms on lipid levels in patients with hyperlipidemia.A total of 533 patients were enrolled. 28891316 2018
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C0020473
Disease:
Hyperlipidemia 		0.010 GeneticVariation BEFREE In conclusion, we provide additional evidence that the R219K polymorphism in the ABCA1 gene either directly or as a result of linkage disequilibrium with additional functional variant(s), has a protective effect against CHD and is associated with lower plasma triglycerides in sub-groups of patients with hyperlipidaemia. 12700893 2003