Annotation Detail

Information
Associated Genes
ABCA1
Associated Variants
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
Associated Disease
obesity
Source Database
DisGeNET
Description
The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities.
Pubmed
17287470
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00426712508316415
Year of publication
2007
Drugs