Gene: C9 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62358361
rs62358361
C9
0.700 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016
dbSNP: rs34882957
rs34882957
C9
0.020 GeneticVariation BEFREE We explored the occurrence of seven rare variants independently associated with AMD (<i>CFH</i> rs121913059 (p.Arg1210Cys), <i>CFI</i> rs141853578 (p.Gly119Arg), <i>C3</i> rs147859257 (p.Lys155Gln), and <i>C9</i> rs34882957 (p.Pro167Ser)) and three non-coding variants in or near the <i>CFH</i> gene (rs148553336, rs35292876, and rs191281603) in 24 AMD case-control studies. 29410599

2018
dbSNP: rs34882957
rs34882957
C9
0.020 GeneticVariation BEFREE In this study, we reveal five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in AMD patients, and evaluate their functional effects in vitro together with the previously identified (p.R118W and p.P167S) C9 variants. 29767720

2018
dbSNP: rs137891079
rs137891079
C9
0.010 GeneticVariation BEFREE In this study, we reveal five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in AMD patients, and evaluate their functional effects in vitro together with the previously identified (p.R118W and p.P167S) C9 variants. 29767720

2018
dbSNP: rs147701327
rs147701327
C9
0.010 GeneticVariation BEFREE In this study, we reveal five novel rare genetic variants (p.M45L, p.F62S, p.G126R, p.T170I and p.A529T) in C9 in AMD patients, and evaluate their functional effects in vitro together with the previously identified (p.R118W and p.P167S) C9 variants. 29767720

2018