Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3750847
rs3750847
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE Incident early AMD was associated with cardiovascular disease history (HR 1.59, 95% CI 1.04-2.45), underweight body mass index (BMI) (HR 3.12, 95% CI 1.37-7.14) (BMI of <18.5 vs 18.51-25 kg/m2), heavy alcohol drinking (HR 3.14 95% CI 1.25-7.89) and ARMS2 rs3750847 homozygous genetic loci carrier (HR 2.52, 95% CI 1.59-3.99). 29891972 2018
dbSNP: rs36212732
rs36212732
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Two of the AMD-risk SNPs (rs36212732 and rs36212733) affect transcription factor binding sites in proximity to a DNase I hypersensitive region (i.e., a region of open chromatin) in RPE cells. 28659708 2017
dbSNP: rs36212733
rs36212733
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE Two of the AMD-risk SNPs (rs36212732 and rs36212733) affect transcription factor binding sites in proximity to a DNase I hypersensitive region (i.e., a region of open chromatin) in RPE cells. 28659708 2017
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0730328
Disease:
Central Serous Chorioretinopathy
0.010 GeneticVariation BEFREE Patients with CVH had a significantly higher frequency of the G allele of ARMS2 A69S (rs10490924) and the T allele of CFH (rs1329428), which are reported to be risk alleles for central serous chorioretinopathy (P = 0.006 and P = 0.032, respectively; multivariate regression analysis). 26745149 2016
dbSNP: rs3750847
rs3750847
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0271084
Disease:
Exudative age-related macular degeneration
0.010 GeneticVariation BEFREE After cross-validation consistency (CVC) and permutation tests, the two-locus model rs2274700_rs3750847 has a balanced accuracy of 64.37% in predicting nAMD disease risk. 25771815 2015
dbSNP: rs3750847
rs3750847
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C1504336
Disease:
Polypoidal choroidal vasculopathy
0.010 GeneticVariation BEFREE The one-marker model, rs3750847, and two-locus model rs2274700_rs3750847 has a balanced accuracy of 66.07% and 65.89% in predicting PCV disease risk, respectively. 25771815 2015
dbSNP: rs10490923
rs10490923
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0017921
Disease:
Glycogen storage disease type II
0.010 GeneticVariation BEFREE CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients. 23534868 2014
dbSNP: rs2736911
rs2736911
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0271084
Disease:
Exudative age-related macular degeneration
0.010 GeneticVariation BEFREE A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report. 22293892 2012
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0154822
Disease:
Serous retinal detachment
0.010 GeneticVariation BEFREE However, the at-risk allele of ARMS2 A69S was associated with a lower incidence of serous retinal detachment (P = 0.0092). 21397333 2011
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0011884
Disease:
Diabetic Retinopathy
0.010 GeneticVariation BEFREE In HTRA1, rs11200638 (G>A), showed marginal significance with DR (P = 0.055) while rs10490924 in LOC387715 gave a P = 0.07. 21067572 2010
dbSNP: rs10664316
rs10664316
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C1260959
Disease:
Drusen
0.010 GeneticVariation BEFREE The polymorphisms rs10664316 and rs1049331 were associated with a decreased risk of poor visual acuity during follow-up and at diagnosis; rs2672598 and rs2293870 were associated with a decreased risk of RPE hyperpigmentation; rs10664316 was associated with a decreased risk of RPE hyperpigmentation with large drusen in the study eye, but an increased risk of large drusen in the fellow eye; rs11200638 was associated with an increased risk of larger CNV; rs10490924 and rs11200638 were associated with younger age of diagnosis. 19796758 2009
dbSNP: rs2736911
rs2736911
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE The analysis of their distribution in 213 AD patients and 149 controls revealed a trend for a reduced frequency of the variant allele of rs2736911 in AD patients (p = 0.038), with an odds ratio of 0.631. 18688167 2008
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0456909
Disease:
Blindness
0.020 GeneticVariation BEFREE The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population. 29316486 2018
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0456909
Disease:
Blindness
0.020 GeneticVariation BEFREE The polymorphism rs10490924 (A69S) in the age-related maculopathy susceptibility 2 (ARMS2) gene is highly associated with age-related macular degeneration, which is the leading cause of blindness among the elderly population. 28915445 2017
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C1720251
Disease:
Retinal pigment epithelium atrophy
0.020 GeneticVariation BEFREE Baseline characteristics and gene polymorphisms of ARMS2 A69S, and CFH I62V were analyzed for association with development and progression of RPE atrophy. 28085772 2017
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0339546
Disease:
Retinal Pigment Epithelial Detachment
0.020 GeneticVariation BEFREE In 81 patients who completed 12-month anti-VEGF monotherapy without photodynamic therapy, significant pharmacogenetic association was found between ARMS2 rs10490924 and PED regression on OCT. Proportions of PED regression were 26.4% for TT, 45.7% for TG, and 63.6% for GG genotype, showing additive effect of G allele for higher chance of PED regression (OR, 2.96; 95% CI, 1.38-6.36; corrected P = 0.043). 29212537 2017
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C1720251
Disease:
Retinal pigment epithelium atrophy
0.020 GeneticVariation BEFREE The ARMS2 A69S and CFH I62V polymorphisms were significantly associated with the baseline RPE atrophy (P = .014 and P = .009, respectively). 26432927 2016
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C4703391
Disease:
Choroidal vascular hyperpermeability
0.020 GeneticVariation BEFREE Subfoveal choroidal thickness and CVH in eyes with treatment-naive polypoidal choroidal vasculopathy were associated with ARMS2 A69S (rs10490924) and CFH (rs1329428). 26745149 2016
dbSNP: rs10490923
rs10490923
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.020 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
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C4703391
Disease:
Choroidal vascular hyperpermeability
0.020 GeneticVariation BEFREE Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significantly differed from those of AMD cases (P = 0.0014 and 0.0098, respectively), but not from general population controls (P = 0.33 and 0.82, statistical power of 88.5% and 72.9%, respectively). 24781946 2014
dbSNP: rs10490923
rs10490923
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0242383
Disease:
Age related macular degeneration
0.020 GeneticVariation BEFREE In the ARMS2 locus, RS10490924 was associated with both early (adjusted RR 1.22, 95% confidence interval [CI]: 1.13-1.33, P < 0.0001) and late AMD (adjusted RR 1.81, 95% CI: 1.15-2.86; P = 0.01); rs2672598 was associated only with early AMD (adjusted RR 1.12, 95% CI: 1.02-1.23; P = 0.02); rs10490923 was not associated with early or late AMD. 23060141 2012
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C0339546
Disease:
Retinal Pigment Epithelial Detachment
0.020 GeneticVariation BEFREE In particular, the at-risk allele homozygosity of ARMS2 A69S increased the likelihood for hemorrhagic PED by 12.4-fold compared with non-carriers of the allele (confidence interval, 1.60-95.1, P = 0.0001). 21397333 2011
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C2609282
Disease:
Reticular pseudodrusen
0.040 GeneticVariation BEFREE Six single nucleotide polymorphisms-rs10490924 (ARMS2), rs1061170 (CFH), rs2230199 (C3), rs116503776 and rs114254831 (C2/CFB), and rs943080 (VEGF-A)-and the genetic risk score (GRS) were assessed for association with RPD. 31558345 2019
dbSNP: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C2609282
Disease:
Reticular pseudodrusen
0.040 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: rs10490924
rs10490924
Entrez Id: 387715;105378525
Gene Symbol: ARMS2;LOC105378525
ARMS2;LOC105378525
CUI: C2609282
Disease:
Reticular pseudodrusen
0.040 GeneticVariation BEFREE Logistic regression analysis revealed that age (odds ratio [OR]:1.10; 95% confidence interval [CI]: 1.04-1.18; p = 0.002), female gender (OR:4.26; 95%CI: 1.72-10.4; p = 0.002), T-allele at ARMS2 A69S (OR: 3.23; 95%CI: 1.36-7.68; p = 0.008) and RAP (OR: 4.25; 95%CI:1.49-12.1; p = 0.007) were risk factors for RPD. 24595987 2014