rs2839471

A SNP in the UMODL1 gene on chromosome 21. Its most notable genotype is C;C: normal

Gene
UMODL1
Location
Chr 2142,134,346 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
41%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratednormalTypical · 0.038% of people
  2. C;TNot rated1.6x increased risk for high myopia in Japanese (but not Chinese)Typical · 0.046% of people
  3. T;TNot rated1.6x increased risk for high myopia in Japanese (but not Chinese)Typical · 0.016% of people

On SNPedia: (C;C), (C;T), (T;T). 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 38% C;T 46% T;T 16%
  • European ancestry (Utah)C;C 34% C;T 50% T;T 17%
  • Han Chinese (Beijing)C;C 30% C;T 48% T;T 22%
  • Japanese (Tokyo)C;C 28% C;T 48% T;T 24%
  • Yoruba (Nigeria)C;C 47% C;T 42% T;T 12%
  • African ancestry (Southwest US)C;C 53% C;T 40% T;T 7%
  • Chinese (Denver)C;C 18% C;T 51% T;T 30%
  • Gujarati IndianC;C 49% C;T 42% T;T 10%
  • Luhya (Kenya)C;C 50% C;T 46% T;T 5%
  • Mexican ancestry (Los Angeles)C;C 28% C;T 50% T;T 22%
  • Maasai (Kenya)C;C 55% C;T 36% T;T 9%
  • TuscanC;C 27% C;T 50% T;T 24%

Conditions, medicines and genes

Notes

From SNPedia

Notes

In a study of more than 500 Japanese patients with high myopia, the rs2839471(T) allele was associated with higher risk. The odds ratio is 1.68 (p=0.00027). Despite two previous GWAS studies associating this SNP with high myopia in Japanese populations, no association was seen in a Chinese population studied.

Source and license

Adapted from rs2839471 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.