rs1053312

A SNP in the COL6A1 gene on chromosome 21. Its most notable genotype is A;G.

Gene
COL6A1
Location
Chr 2146,003,475 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
28%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableNot ratedNo summary available.Typical · 0.037% of people
  2. G;GGoodcommon in clinvarTypical · 0.054% of people

On SNPedia: (A;G), (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.

  • AverageA;G 37% G;G 54%
  • European ancestry (Utah)A;G 41% G;G 55%
  • Han Chinese (Beijing)A;G 22% G;G 75%
  • Japanese (Tokyo)A;G 28% G;G 62%
  • Yoruba (Nigeria)A;G 44% G;G 35%
  • African ancestry (Southwest US)A;G 46% G;G 33%
  • Chinese (Denver)A;G 23% G;G 75%
  • Gujarati IndianA;G 37% G;G 61%
  • Luhya (Kenya)A;G 53% G;G 33%
  • Mexican ancestry (Los Angeles)A;G 40% G;G 47%
  • Maasai (Kenya)A;G 38% G;G 58%
  • TuscanA;G 32% G;G 60%

Source and license

Adapted from rs1053312 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.