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From SNPedia

age related macular degeneration
Geno Mag Summary
(G;G) 0 normal
(G;T) 2.5 2.7x risk for age related macular degeneration
(T;T) 3.5 8.2x risk for age related macular degeneration
ReferenceGRCh38 38.1/141
GeneARMS2, LOC105378525
is asnp
is mentioned by
dbSNP (classic)rs10490924
1000 genomesrs10490924
GWAS Ctlgrs10490924
Max Magnitude3.5
? (G;G) (G;T) (T;T) 28

CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs10490924, also known as c.205G>T, p.Ala69Ser and A69S, was identified as a risk factor from chromosome 10 related to age related macular degeneration. The risk allele is (T). Odds ratios for heterozygotes and homozygotes are, respectively, 2.69 (CI: 2.22-3.27) and 8.21 (CI: 5.79-11.65).[PMID 16174643]

Disease risk in combination with the rs1061170 SNP in the CFH gene is dramatically increased. Homozygotes for both the rare/risk alleles at both loci are estimated to be at 57 fold higher risk for age related macular degeneration than individuals homozygous for the common alleles at both loci. [PMID 16174643]

A subsequent study indicated that the risk based on solely the ARMS2 SNP rs10490924 is significantly higher in smokers than in non-smokers. [PMID 16642439OA-icon.png]

Based on a study of ~750 patients, rs10490924 is significantly higher in participants with choroidal neovascularization than in those with geographic atrophy (odds ratio 1.37, CI: 1.21-1.54, p = 4.2 × 10(-7)).[PMID 21122828OA-icon.png]

Note that this SNP is completely predictive (ie is in perfect linkage disequilibrium) with rs11200638, thus the status of one predicts the status of the other.

[PMID 17884985OA-icon.png] A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria.

[PMID 18164066OA-icon.png] rs10490924 and rs11200638 defined 2 significant haplotypes associated with increased risk of neovascular AMD.

[PMID 18400199] In comparison with wild-type homozygosity (G;G), homozygosity for the at-risk allele genotype (T;T) increased the likelihood for polypoidal choroidal vasculopathy (PCV) 8.4-fold (CI: 3.6-19.5) and heterozygosity for the at-risk allele genotype (G;T) increased the risk for PCV 4x (CI: 1.9-8.4), based on a study of ~100 Japanese patients.

[PMID 18682806OA-icon.png] An analysis of the joint effects of rs1061170, rs11200638 and rs10490924 on AMD

[PMID 19268887] ARMS2 (LOC387715) Variants in Japanese Patients with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

[PMID 19259132OA-icon.png] Multilocus analysis of age-related macular degeneration.

[PMID 19255159OA-icon.png] Age-Related Macular Degeneration Associated ARMS2 is not a Mitochondrial but Cytosolic Protein.

DescLOC387715 GENE

[PMID 19680273] ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population

[PMID 19797206] Susceptibility genes and progression in age-related maculopathy - a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)

[PMID 19796758OA-icon.png] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration

[PMID 19491722] Analyses of single nucleotide polymorphisms and haplotype linkage of LOC387715 and the HTRA1 gene in exudative age-related macular degeneration in a Chinese cohort

[PMID 19898184] Angiographic lesion size associated with loc387715 a69s genotype in subfoveal polypoidal choroidal vasculopathy

[PMID 19933195] Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10q26

[PMID 20157352OA-icon.png] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population

[PMID 20182747OA-icon.png] Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration

[PMID 20381870OA-icon.png] Progression of Geographic Atrophy and Genotype in Age-Related Macular Degeneration

GWAS snp
PMID [PMID 20385826OA-icon.png]
Trait Age-related macular degeneration
Title Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Risk Allele
P-val 5E-119
Odds Ratio None None

[PMID 20664795OA-icon.png] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

[PMID 20688737] Joint Effect of Cigarette Smoking, CFH and LOC387715/HTRA1 Polymorphisms on Polypoidal Choroidal Vasculopathy

GWAS snp
PMID [PMID 20861866OA-icon.png]
Title Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration
Risk Allele T
P-val 1E-60
Odds Ratio 2.75 [NR]

[PMID 21067572OA-icon.png] Association Analysis of Nine Candidate Gene Polymorphisms in Indian Patients with Type 2 Diabetic Retinopathy


[PMID 21621535] No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD

GWAS snp
PMID [PMID 21665990OA-icon.png]
Title Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Risk Allele T
P-val 0
Odds Ratio 2.9400 [NR]

[PMID 21825189OA-icon.png] Complement Factor H 402H Variant and Reticular Macular Disease


[PMID 21882634] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 2: The impact of HTRA and VEGF genes polymorphism]

[PMID 22049084OA-icon.png] HTRA1 regulates angiogenesis through TGF-? family member GDF6

[PMID 22509112OA-icon.png] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis

[PMID 22552255] Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients

[PMID 21959923] Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population

[PMID 22594510] Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population

[PMID 22699975OA-icon.png] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization

Risk Rs10490924(T;T)
Alt Rs10490924(T;T)
Reference Rs10490924(G;G)
Significance Other
Disease Age-related macular degeneration 8 not provided Macular degeneration
Variation info
Gene ARMS2
CLNDBN Age-related macular degeneration 8 not provided Macular degeneration
Reversed 0
HGVS NC_000010.10:g.124214448G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001030.3, RCV000190307.1, RCV000371544.1,

[PMID 16080115OA-icon.png] Susceptibility genes for age-related maculopathy on chromosome 10q26.

[PMID 17210853] Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.

[PMID 17325155OA-icon.png] The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples.

[PMID 17327825OA-icon.png] An update on the genetics of age-related macular degeneration.

[PMID 17347568] The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.

[PMID 17426452] HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration.

[PMID 17438519OA-icon.png] HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration.

[PMID 17692272] LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population.

[PMID 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 17917691OA-icon.png] Genetic markers and biomarkers for age-related macular degeneration.

[PMID 18043728OA-icon.png] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.

[PMID 18061132] Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.

[PMID 18079691] PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.

[PMID 18162041OA-icon.png] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

[PMID 18248681OA-icon.png] Prevalence of common disease-associated variants in Asian Indians.

[PMID 18301036] HTRA1 polymorphism in dry and wet age-related macular degeneration.

[PMID 18423869] CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.

[PMID 18436811] Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.

[PMID 18493315OA-icon.png] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

[PMID 18515590] Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.

[PMID 18535016OA-icon.png] Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

[PMID 18601744OA-icon.png] Combining identity by descent and association in genetic case-control studies.

[PMID 18682812OA-icon.png] Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

[PMID 18688167] Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for Alzheimer's disease.

[PMID 19026761OA-icon.png] Molecular pathology of age-related macular degeneration.

[PMID 19048105OA-icon.png] Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.

[PMID 19065273OA-icon.png] Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel.

[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

[PMID 19202148OA-icon.png] Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.

[PMID 19661236OA-icon.png] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.

[PMID 19806217OA-icon.png] rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.

[PMID 19823576OA-icon.png] CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.

[PMID 19958499OA-icon.png] A particle swarm based hybrid system for imbalanced medical data sampling.

[PMID 20140183OA-icon.png] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

[PMID 20157618OA-icon.png] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.

[PMID 20339564OA-icon.png] Risk factors for age-related maculopathy.

[PMID 20346514OA-icon.png] C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.

[PMID 20378180OA-icon.png] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.

[PMID 20456446] LOC387715/HTRA1 polymorphisms, smoking and combined effects on exudative age-related macular degeneration in a Korean population.

[PMID 20664794OA-icon.png] Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

[PMID 20689796OA-icon.png] Monozygotic twins with polypoidal choroidal vasuculopathy.

[PMID 20881291OA-icon.png] Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision.

[PMID 21203342OA-icon.png] Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration.

[PMID 21397333] Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy.

[PMID 21402993OA-icon.png] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

[PMID 21455292OA-icon.png] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.

[PMID 21896867] Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.

[PMID 22293892OA-icon.png] A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.

[PMID 22491416] Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.

[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.

GWAS snp
PMID [PMID 22705344OA-icon.png]
Title Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
Risk Allele T
P-val 0
Odds Ratio 3.6700 None
GWAS snp
PMID [PMID 22694956OA-icon.png]
Title Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
Risk Allele T
P-val 3E-72
Odds Ratio 3.0000 None

[PMID 22977134] Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in AMD

[PMID 23337555OA-icon.png] Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT)

[PMID 23111182] Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration

[PMID 23302509OA-icon.png] Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study

[PMID 23098369] ARMS2 increases the risk of early and late age-related macular degeneration in the European Eye Study

[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration

[PMID 23644223OA-icon.png] Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina

GWAS snp
PMID [PMID 23455636OA-icon.png]
Trait Age-related macular degeneration
Title Seven new loci associated with age-related macular degeneration.
Risk Allele T
P-val 4E-540
Odds Ratio 2.76 [2.72-2.80]

[PMID 23938121OA-icon.png] Associations of Candidate Genes to Age-Related Macular Degeneration Among Racial/Ethnic Groups in the Multi-Ethnic Study of Atherosclerosis

GWAS snp
PMID [PMID 23577725OA-icon.png]
Trait Age-related macular degeneration
Title Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
Risk Allele A
P-val 8E-27
Odds Ratio 2.28 [1.96-2.65]

[PMID 24332537] Incidence and Progression of Reticular Drusen in Age-Related Macular Degeneration: Findings from an Older Australian Cohort

[PMID 23103884] Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.

[PMID 23204795OA-icon.png] Pharmacogenetic influence of LOC387715/HTRA1 on the efficacy of bevacizumab treatment for age-related macular degeneration in a Korean population.

[PMID 23289807] Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.

[PMID 23289808] The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy.

[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

[PMID 24865191] Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population

[PMID 24970616] The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration

[PMID 24067115OA-icon.png] Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report

[PMID 25439433] Chronic Central Serous Chorioretinopathy Is Associated with Genetic Variants Implicated in Age-Related Macular Degeneration

[PMID 24974817OA-icon.png] No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

[PMID 26067391OA-icon.png] Differential DNA Methylation Identified in the Blood and Retina of AMD Patients

[PMID 26154559OA-icon.png] The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration

[PMID 26681391] Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.

[PMID 27099955OA-icon.png] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.

[PMID 28659708OA-icon.png] Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.

[PMID 29259020OA-icon.png] Genetic risk factors for late age-related macular degeneration in India.

[PMID 29311295OA-icon.png] CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation.

[PMID 30154790OA-icon.png] Novel Association of High C-Reactive Protein Levels and A69S at Risk Alleles in Wet Age-Related Macular Degeneration Women.

[PMID 31916060] Investigation of genetic base in the treatment of age-related macular degeneration.

[PMID 32138827] Distribution of risk alleles in patients with age-related macular degeneration.

[PMID 31988359OA-icon.png] Association of Irregular Pigment Epithelial Detachment in Central Serous Chorioretinopathy with Genetic Variants Implicated in Age-related Macular Degeneration.