Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE Con-clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD. 31614353

2019

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE To determine the impact of <i>HTRA1</i> rs1120638, <i>TIMP3</i> rs9621532, <i>VEGFA</i> rs833068, <i>CFI</i> rs10033900, <i>ERCC6</i> rs3793784, and <i>KCTD10</i> rs56209061 genotypes on the development of age-related macular degeneration (AMD) in the Lithuanian population. 31583032

2019

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016

dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344

2012

dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs10033900
rs10033900
CFI
T 0.840 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, and those with the CFH Y402H GG genotype had a 2.2 [1.0-4.8]-fold higher risk of developing AMD compared with non-carriers. 21906714

2011

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation BEFREE There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possible interaction effect between LIPC and both CFH rs10033900 and the complement factor I (CFI) variants in terms of risk of AMD. 21139980

2010

dbSNP: rs10033900
rs10033900
CFI
0.840 GeneticVariation GWASDB Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826

2010

dbSNP: rs141853578
rs141853578
CFI
0.750 GeneticVariation BEFREE Current study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. 29392637

2019

dbSNP: rs141853578
rs141853578
CFI
0.750 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: rs141853578
rs141853578
CFI
0.750 GeneticVariation BEFREE Carriers of CFH (Arg175Gln and Ser193Leu) and CFI (Gly119Arg and Leu131Arg) variants have an impaired ability to regulate complement activation and may benefit more from complement-inhibiting therapy than patients with AMD in general. 27918759

2017

dbSNP: rs141853578
rs141853578
CFI
0.750 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016

dbSNP: rs141853578
rs141853578
CFI
0.750 GeneticVariation BEFREE Although these data support the conclusions of van de Ven et al. that the p.Gly119Arg substitution confers a high risk of AMD, our data suggest that this missense mutation is not as rare or as highly penetrant as previously reported. 25352734

2014

dbSNP: rs141853578
rs141853578
CFI
0.750 GeneticVariation BEFREE Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 × 10⁻⁶; odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). 23685748

2013

dbSNP: rs1435946585
rs1435946585
CFI
0.010 GeneticVariation BEFREE Carriers of CFH (Arg175Gln and Ser193Leu) and CFI (Gly119Arg and Leu131Arg) variants have an impaired ability to regulate complement activation and may benefit more from complement-inhibiting therapy than patients with AMD in general. 27918759

2017

dbSNP: rs1486838526
rs1486838526
CFI
0.010 GeneticVariation BEFREE Carriers of CFH (Arg175Gln and Ser193Leu) and CFI (Gly119Arg and Leu131Arg) variants have an impaired ability to regulate complement activation and may benefit more from complement-inhibiting therapy than patients with AMD in general. 27918759

2017