Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D)
(
ENST00000299367.10,
ENST00000442278.6,
ENST00000447952.7,
ENST00000452323.7,
ENST00000469372.5,
ENST00000497706.6,
ENST00000695637.1,
ENST00000695638.1,
ENST00000695644.1 )
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( 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 )
ENSG00000244255 c.530-1292G>C, C2 p.Glu318Asp (p.E318D) ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 )
ENSG00000244255 c.901+62G>T, C2 c.1360+62G>T ( ENST00000299367.10, ENST00000442278.6, ENST00000447952.7, ENST00000452323.7, ENST00000469372.5, ENST00000497706.6, ENST00000695637.1, ENST00000695638.1, ENST00000695644.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( 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
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (R32Q) that are known to be associated with age-related macular degeneration (AMD).
- Pubmed
- 19556007
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.319044594910295
- Year of publication
- 2009
Drugs