Annotation Detail
Information
- Associated Genes
- EPHX2
- Associated Variants
-
EPHX2 p.Arg287Gln (p.R287Q)
(
ENST00000380476.7,
ENST00000517536.5,
ENST00000518379.5,
ENST00000521400.6,
ENST00000521780.5 )
EPHX2 p.Arg287Gln (p.R287Q) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 ) - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs