Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Three SNPs in C2 (rs547154 [IVS10]; P = 5.4 x 10(-11)) and CFB (rs641153 [R32Q], P = 2.2 x 10(-7) and rs2072633 [IVS17]; P = 2.0 x 10(-4)) were strongly associated with reduced risk of AMD. 19696172 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE In this study, the association of the IVS10 and R32Q variants in the C2 and BF genes in AMD was replicated. 18806293 2009
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)). 17576744 2007
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE The L9H variant of BF and the E318D variant of C2 (H10), as well as a variant in intron 10 of C2 and the R32Q variant of BF (H7), confer a significantly reduced risk of AMD (odds ratio = 0.45 and 0.36, respectively). 16518403 2006