Annotation Detail

Information
Associated Genes
CFB
Associated Variants
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
Associated Disease
MACULAR DEGENERATION, AGE-RELATED, 14
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