rs3750847

A SNP in the ARMS2 gene on chromosome 10. Its most notable genotype is C;C: common in clinvar

Gene
ARMS2
Location
Chr 10122,455,905 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
27%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in clinvarTypical · 0.049% of people

SNPedia records rs3750847 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 11 HapMap populations.

  • AverageC;C 49%
  • European ancestry (Utah)C;C 61%
  • Han Chinese (Beijing)C;C 29%
  • Japanese (Tokyo)C;C 39%
  • Yoruba (Nigeria)C;C 57%
  • African ancestry (Southwest US)C;C 58%
  • Chinese (Denver)C;C 33%
  • Gujarati IndianC;C 43%
  • Luhya (Kenya)C;C 49%
  • Mexican ancestry (Los Angeles)C;C 52%
  • Maasai (Kenya)C;C 49%
  • TuscanC;C 72%

Other ARMS2 SNPs

All ARMS2 SNPs

Notes

From SNPedia

Show notes, about 140 words

association with ARMD Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Rapid inexpensive genome-wide association using pooled whole blood. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

Source and license

Adapted from rs3750847 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.