Annotation Detail

Information
Associated Genes
ABCA1
Associated Variants
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
Associated Disease
obesity
Source Database
DisGeNET
Description
R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males.
Pubmed
17923263
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00426712508316415
Year of publication
2007
Drugs