Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
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 )
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
- Drusen
- Source Database
- DisGeNET
- Description
- The CFB (R32Q) polymorphism was associated with AMD characterized by small drusen only, and appeared to be protective of large drusen (OR 0.48/0.45) and of larger drusen covered area (OR 0.34).
- Pubmed
- 23373431
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2014
Drugs