Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001). 24362810

2014

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The I62V and A69S polymorphisms were associated with all three subtypes: tAMD (P = 3.74 × 10(-18) and 1.</span>37 × 10(-35), respectively), PCV (P = 3.18 × 10(-19) and 3.96 × 10(-18), respectively), and RAP (P = 0.034 and 2.49 × 10(-18), respectively). 20574013

2010

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Association of Combined Complement Factor H Y402H and ARMS/LOC387715 A69S Polymorphisms with Age-related Macular Degeneration: A Meta-analysis. 27269047

2016

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
A 0.900 GeneticVariation GWASCAT We confirmed the association of age-related maculopathy susceptibility 2 (ARMS2) rs10490924 (P=7.38 × 10<sup>-17</sup>), HTRA1 rs11200638 (P=5.47 × 10<sup>-17</sup>) and complement factor H gene (CFH) rs800292 (P=2.53 × 10<sup>-8</sup>) with neovascular AMD, all loci passing the genome-wide significance level (P<5.22 × 10<sup>-8</sup>). 28703135

2017

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The rs10490924 polymorphism, the major determinant of the 10q26 association with ARMD, determines the A69S substitution in the LOC387715/ARMS2 gene. 18688167

2008

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The specific functional role of ARMS2-rs10490924 remains as yet unknown, but it appears to mainly affect the progression to late AMD stages. 19797206

2010

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Logistic regression analysis revealed a relationship between the rs10490924 polymorphism and AMD in the Turkish population. 28128407

2017

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Multiple studies demonstrate a strong association between three variants at chromosome 10q26 - rs10490924, del443ins54, and rs11200638 - near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related macular degeneration (AMD). 20664794

2010

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE A total of 1,080 patients with exudative AMD and 406 controls were recruited and genotyped for Y402H of complement factor H (CFH), rs10490924 of age-related maculopathy susceptibility 2 (ARMS2), and R102G of the C3 gene. 20664795

2010

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Blood samples from all subjects were genotyped for major age-related macular degeneration (AMD)-associated single nucleotide polymorphisms (SNPs) the major AMD-associated SNPs; CFH Y402H rs1061170, CFH I62V rs800292, ARMS2 A69S rs10490924. 30596689

2018

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The ARMS2/HTRA1 genes at the 10q26 locus have been associated with risk of age-related macular degeneration (AMD), with the most significantly associated variants being A69S (rs10490924), del443ins54 (EU427539) and rs11200638. 23592919

2013

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation GWASDB Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 21909106

2011

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Comparison of ARMS2/LOC387715 A69S and CFH Y402H risk effect in wet-type age-related macular degeneration: a meta-analysis. 29423786

2019

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Sub-analysis demonstrated that women with ARMS2 A69S polymorphisms had a stronger risk for early AMD (OR: 3.25, 95% CI: 2.10-5.04) than men (OR: 1.65, 95% CI: 1.02-2.69). 29335418

2018

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Patients were genotyped to identify major single nucleotide polymorphisms associated with AMD (CFH Y402, CFH I62V, and ARMS2 A69S). 27521170

2016

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 (p = 0.029), CFH rs800292 (p = 0.013) and genetic risk score calculated from 11 AMD susceptibility genes (p = 3.8 × 10(-3)). 26542071

2015

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
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

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Two SNPs generated highly significant allelic associations with PCV (rs10490924, P = 5.7 x 10(-6); rs11200638, P = 5.2 x 10(-6)) and AMD (rs10490924, P = 1.4 x 10(-6); rs11200638, P = 3.4 x 10(-7)). 17692272

2007

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The highest risk was observed in those doubly homozygous for rs10490924</span> and rs1061170 in CFH (OR, 62.3; 95% confidence interval, 16-242), with P values for trend ranging from 0.03 (early AMD, stage 1) to 1 × 10(-26) (late AMD). 23098369

2013

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (ARMS2). 22065928

2011

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE The lack of functional effects of the 3'UTR indel, the amino acid substitution of rs10490924 (A69S), and strong LD between them suggest that A69S, not the indel, is the variant that confers risk of AMD. 20182747

2010

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
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

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV with age, sex, smoking, and genetic background of ARMS2 A69S and CFH I62V (vs. typical AMD: P = 0.0073, odds ratio [OR] = 0.47; vs. PCV: P = 0.0083, OR = 0.53). 22232432

2012

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.900 GeneticVariation BEFREE We propose that rs10490924 represents a major susceptibility variant for AMD at 10q26. 17884985

2007

dbSNP: rs10490924
rs10490924
CUI: C0242383
Disease: Age related macular degeneration
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