rs1410996, CFH

N. diseases: 11
Source: ALL
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
0.900 GeneticVariation BEFREE However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown. 30696427 2019
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE This meta-analysis suggested that CFH rs1061170 and rs1410996 polymorphisms were associated with AMD risk, both of which demonstrated a higher susceptibility to AMD, especially to nAMD. 26727378 2016
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE Risk alleles of three SNPs, rs1061170 (CFH), rs1410996 (CFH), and rs10490924 (ARMS2) were found to be significantly associated with the AMD case/control status as defined by the algorithm. 26255974 2015
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE Our results show that genotypes of ARMS2 (rs10490923), HTRA1 (rs112000638) and CFH (rs1410996) polymorphisms are related to an increased risk of suffering AMD in Spanish patients. 23534868 2014
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. 23233260 2013
Age related macular degeneration
CUI: C0242383
Disease: 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
Age related macular degeneration
CUI: C0242383
Disease: 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
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an increased risk of AMD. 21906714 2011
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE This study showed that SNPs rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), but not rs7535263, rs1410996, or rs2274700, in CFH were significantly associated with wet AMD in a mainland Han Chinese population. 20523265 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 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
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation GWASDB Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population. 19850835 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.900 GeneticVariation BEFREE The interaction analysis between gene and environmental factors showed that smoking synergistically increased susceptibility of AMD for heterozygotes of rs1410996, with OR(interaction) of 7.33 (P(interaction) = 0.029). 19187590 2008
Age related macular degeneration
CUI: C0242383
Disease: 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
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
response to bronchodilator
CUI: C3548479
Disease: response to bronchodilator
0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
von Willebrand's factor (lab test)
CUI: C2239219
Disease: von Willebrand's factor (lab test)
0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
Coagulation factor measurement
CUI: C1167912
Disease: Coagulation factor measurement
0.700 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
0.700 SusceptibilityMutation CLINVAR
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.030 GeneticVariation BEFREE CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients. 23534868 2014
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.030 GeneticVariation BEFREE The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk of exudative AMD in a Chinese population. 19850835 2010
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.030 GeneticVariation BEFREE The interaction analysis between gene and environmental factors showed that smoking synergistically increased susceptibility of AMD for heterozygotes of rs1410996, with OR(interaction) of 7.33 (P(interaction) = 0.029). 19187590 2008
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × 10(-13)), the SNPs rs1410996 (p = 0.0001), rs800292 (p = 0.003), rs12144939 (p = 4.60 × 10(-6)) in CFH, rs4151667 (p = 1.01 × 10(-5)) in CFB and individual haplotypes in CFH and CFB. 24675670 2014