rs3750847
This is a intron variant variant in the ARMS2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
age-related macular degeneration
Winkler TW et al. “Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.” Bmc Medical Genomics 13(1):120 (2020)
Allele T
OR 1.47
p 1.0e-116
N 105,248
Meta-analysisLarge GWAS
European
Guindo-Martínez M et al. “The impact of non-additive genetic associations on age-related complex diseases.” Nature Communications 12(1):2436 (2021)
Allele T
OR 1.72
p 8.0e-73
N 56,637
Large GWAS
European
▶ClinVar annotation
not_provided
1 submitterAbout 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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