Annotation Detail

Information
Associated Genes
C3
Associated Variants
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
C3 p.Arg102Gly (p.R102G) ( ENST00000245907.11, ENST00000695693.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
We investigated the association between the LOC387715 A69S and complement component C3 R102G risk alleles in the Finnish case-control material and found a significant association with both variants (OR 2.98, p = 3.75 x 10(-9); non-AMD controls and OR 2.79, p = 2.78 x 10(-19), blood donor controls and OR 1.83, p = 0.008; non-AMD controls and OR 1.39, p = 0.039; blood donor controls), respectively.
Pubmed
19048105
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.311039415791402
Year of publication
2008
Drugs