Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg534Leu (p.R534L), CFB p.Arg32Leu (p.R32L) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G have been strongly and consistently associated with AMD.
- Pubmed
- 21169531
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.403743137904031
- Year of publication
- 2011
Drugs