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 These results suggest that a genetic predisposition to AMD conferred by the CFH Y402H variant limits the benefit provided by DHA supplementation. 26132079

2015

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE In a German cohort of 530 AMD patients, we now show that protection against AMD conferred by ΔCFHR3/CFHR1 is independent of the effects of rs2274700 and rs1061170 (CFH:Y402H). 20843825

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE CFH Y402H SNP might be protective for AMD in the Turkish population. 27404493

2016

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. 30285522

2018

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE A combination of elevated CRP and the CC (Y402H) genotype resulted in a super-additivity of the risks, with odds ratios of 19.3 (95% CI, 2.8-134) for late AMD, and 6.8 (95% CI, 1.2-38.8) for AMD progression, with the attributable proportion of risk owing to CRP-CFH interaction calculated at 26% for prevalent late AMD and 22% for AMD progression. 20605213

2010

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The findings are consistent with evidence that, in addition to the widely described Y402H variant, there is at least one and, most probably, several other mutations in the CFH gene which determine disease manifestation in AMD. 17314151

2007

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE This variant's effect on AMD is statistically independent of CFH and is of similar magnitude to the effect of Y402H. 16642439

2006

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Two common variants in the gene encoding complement factor H (CFH), the Y402H substitution (rs1061170, c.1204C>T)(1-4) and the intronic rs1410996 SNP(5,6), explain 17% of age-related macular degeneration (AMD) liability. 22019782

2011

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To examine the association of current cigarette smoking and pack-years smoked with the incidence and progression of age-related macular degeneration (AMD) and to examine the interactions of current smoking and pack-years smoked with complement factor H (CFH, rs1061170) and age-related maculopathy susceptibility 2 (ARMS2, rs10490924) genotype. 24953792

2014

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517

2013

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE In addition, a specific Y402H polymorphism of the complement inhibitor factor H has been found to be associated with the incidence of both AMD and AS. 22067048

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The crude OR for risk of AMD was 2.9 (95% CI = 2.4-3.4, P < 0.0001) according to the number of rs10490924 T alleles in the LOC387715 gene, and 2.0 (95% CI = 1.7-2.3, P < 0.0001) according to the number of rs1061170 C alleles in the CFH gene. 22977134

2012

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian population. 23306536

2013

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans. 18223247

2008

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE After controlling for environmental risk factors, CFH and HTRA1 SNPs were independently associated with exudative AMD, with OR of 3.50 (1.45 - 8.45) for CT genotype in Y402H, 3.34 (1.33 - 8.36) for GG genotype in rs1410996 and 3.85 (1.58 - 9.42) for AA genotype in rs11200638 respectively. 19187590

2008

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We found association of eight common HF1 SNPs with AMD; two common missense variants exhibit highly significant associations (I62V, chi2 = 26.1 and P = 3.2 x 10(-7) and Y402H, chi2 = 54.4 and P = 1.6 x 10(-13)). 15870199

2005

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To understand the involvement of the Y402H polymorphism in AMD, we leverage methods from bioinformatics and computational biophysics to quantify structural and dynamical differences between SCR7 isoforms that contribute to decreased pattern recognition in SCR7<sup>H402</sup>. 30616835

2019

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To determine whether complement factor H (CFH Y402H) genotype influences bilateral involvement of age-related macular degeneration (AMD) lesions. 19822851

2009

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We have previously shown a strong association of C3 (R102G) and CFH Y402H with AMD whereas no association was found for CCL2-2518. 28095095

2017

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The CC risk genotype of Y402H was significantly associated with increased AMD progression [odds ratio (OR) 2.43, 95% confidence interval (95% CI) 1.07-5.49] as was smoking (OR 2.28, 95% CI 1.26-4.12). 18203751

2008

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The complement factor H (CFH) tyrosine 402 histidine (Y402H, rs1061170) variant is known to be significantly associated with age-related macular degeneration (AMD). 24863099

2014

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The seventh short complement regulator (SCR-7) domain of the 20 in FH is associated with age-related macular degeneration through a Tyr402His polymorphism. 17362990

2007

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Although the Y402H variant was not significantly associated with AMD, other coding and noncoding variants in the CFH gene including rs1410996 and smoking moderately influenced the risk of AMD in a Japanese population. 17962488

2007

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We detected a strong association between the C/C-genotype compared to the T/T-genotype of Tyr402His polymorphism (first base of the Tyr-codon changes) of the CFH gene and AMD in the AMD cases compared to the non-AMD (p=8.86x10(-12)) or to blood donor controls (p=2.02x10(-13)). 16885922

2006

dbSNP: rs1061170
rs1061170
CFH
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons. 23497844

2013