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
0.710 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
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.710 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016