rs2736911
This is a stop gained variant in the ARMS2 gene.
▶ClinVar annotation
ARMS2-related disorder; Age related macular degeneration 8
View on ClinVar →▶Research that mentions this SNP (1)
▶Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E geneAssociationN=8,000Lars G. Fritsche et al.(2009)· Human Mutation
This cumulative PhD dissertation investigates genetic susceptibility factors for age-related macular degeneration (AMD). The study confirms weak associations of APOE coding variants with AMD risk (P < 0.05) but finds no association with HMCN1 variants. Large replication studies of candidate genes TLR3 and SERPING1 (1,080-4,881 cases and 2,669-2,842 controls) show no association. The authors identified 15 high-risk variants in ARMS2/HTRA1 region on chromosome 10q23.33-10qter, with the ARMS2 A69S variant showing 2.7-fold increased risk heterozygously and 8.2-fold increased risk homozygously, comparable in strength to CFH Y402H. An indel variant (c.*372_815del443ins54) in ARMS2 3' UTR causes mRNA destabilization.
About ARMS2
This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]
View all ARMS2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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