Annotation Detail
Information
- Associated Genes
- C2
- 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.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 c.3646-74A>G, CFB c.2140-74A>G ( 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.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 )
ENSG00000244255 c.3646-74A>G, CFB c.2140-74A>G ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), rs1048709 (R150R), rs4151659 (K565E), or rs2072633 (IVS17) in the BF gene.
- Pubmed
- 18806293
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.292322401182935
- Year of publication
- 2009
Drugs