Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE However with the recent finding of the Tyr402His polymorphism in the complement factor H gene being implicated in AMD, we are about to witness a new wave of research in this disease. 17134647

2006

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. 28641277

2019

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
C 0.900 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE This study confirmed associations of the Y402H CFH gene variant with AMD in nonwhite populations, but neither explained the lack of association between inflammatory factors and AMD in the cohort nor the basis for the observed differences in AMD prevalence across ethnic groups. 18538409

2008

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Exploratory analyses observed that the association between xanthophyll intake and AMD varied statistically significantly by CFH rs1061170 genotype among Caucasians (p for interaction = 0.045) but not African Americans. 28332910

2017

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE By analytical ultracentrifugation, large amounts of oligomers were observed with both the native Tyr402 and the AMD-risk His402 homozygous allotypes of FH and both the recombinant SCR-6/8 allotypes with Tyr/His402. 21396937

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE However, the association with the CFH Y402H risk allele appeared to be stronger, whereas the association with smoking was less pronounced when compared to AMD as a whole. 22933840

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE CFH Y402H is associated with AMD, tAMD, and PCV, whereas I62V is associated with all three subtypes. 20574013

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Comparison of above-mentioned ORs revealed statistically higher values for GT and TT genotypes of ARMS2 A69S compared with CFH Y402H genotypes (p = 0.011, p = 0.014, respectively).Our analysis showed stronger contribution of ARMS2 in AMD with RPD group versus AMD without RPD group, in comparison with CFH genotypes. 28593728

2018

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The Y402H polymorphism in FH is a risk factor for age-related macular degeneration. 19850925

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Homozygous carriers of the Y402H risk variant in the complement factor H (CFH) gene developed neovascular AMD 2.8 (95% CI, 0.5-5.0) years earlier (P = .02). 25695752

2015

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To investigate whether the major genetic and environmental risk factors of age-related macular degeneration (AMD)-CFH Y402H and LOC387715 A69S and cigarette smoking-are also associated with polypoidal choroidal vasculopathy (PCV) and whether the associations of CFH Y402H and LOC387715 A69S with PCV are modified by smoking. 20688737

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and T280M of the CX3CR1 gene. 21621535

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE There was also no significant association between Chlamydia species IgG seropositivity and AMD status or severity, in patients carrying at least one CFH Y402H risk allele (C) or HTRA1 rs11200638 risk allele (A), with univariate or logistic regression analysis. 22259222

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The number of risk alleles for Y402H was associated with advanced AMD, with odds ratios (OR) of 2.7 (95% confidence interval (CI) 1.8-3.8) for the CT heterozygous genotype and OR 7.4 (4.7-11.8) for the homozygous CC risk genotype, after controlling for demographic and behavioral risk factors. 16816528

2006

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We postulated that the functional Y402H polymorphism within the CFH gene and unambiguously recognised as a major genetic determinant of AMD, may also be a risk factor of AD. 18433936

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 17241667

2007

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To determine the association of high-risk alleles in the complement factor H (CFH; Y402H, rs1061170) and age-related maculopathy susceptibility (ARMS2; A69S, rs10490924) genes with reticular macular disease (RMD), a major clinical subphenotype of age-related macular degeneration (AMD). 21825189

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH), rs11200638 in HTRA1 and rs1413711 in VEGF) were determined. 24080590

2013

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE No associations appeared between HIF1A SNPs and AMD, which were studied here for the first time; however, polymorphism rs1061170 of the CFH gene is associated with AMD in our population. 24995509

2015

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We also found that Y402H C and A69S T allele were associated with AMD. 21790300

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE FHL-1 is largely bound to Bruch's membrane through interactions with heparan sulfate, and we show that the common Y402H polymorphism in the CFH gene, associated with an increased risk of AMD, reduces the binding of FHL-1 to this heparan sulfate. 25305316

2014

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time. 22293892

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. 21930971

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE A non-synonymous SNP (rs1061170/Y402H) in CFH encoding complement factor H (fH) is robustly associated with increased AMD risk but associations with CHD risk have been inconsistent. 20708732

2010