Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332739
rs9332739
0.860 GeneticVariation BEFREE Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018. 30179527

2018

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation BEFREE The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low. 22273503

2012

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344

2012

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation BEFREE Although the E318D and L9H variants have shown association with AMD in previous studies, the findings were not in agreement. 18806293

2009

dbSNP: rs9332739
rs9332739
0.860 GeneticVariation BEFREE 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). 19556007

2009

dbSNP: rs9332739
rs9332739
0.860 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

dbSNP: rs9332739
rs9332739
0.860 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