rs1676486

A SNP in the COL11A1 gene on chromosome 1. Its most notable genotype is A;A: >1.4x risk for LDH

Gene
COL11A1
Location
Chr 1102,888,582 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
18%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot rated>1.4x risk for LDHWorth knowing · 2.06% of people
  2. A;GNot rated1.4x risk for LDHWorth knowing · 2.034% of people
  3. G;GNot ratedNo summary available.Typical · 0.059% of people

On SNPedia: (A;A), (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;A 6% A;G 34% G;G 59%
  • European ancestry (Utah)A;A 2% A;G 37% G;G 61%
  • Han Chinese (Beijing)A;A 9% A;G 33% G;G 58%
  • Japanese (Tokyo)A;A 6% A;G 38% G;G 57%
  • Yoruba (Nigeria)A;A 2% A;G 27% G;G 71%
  • African ancestry (Southwest US)A;A 9% A;G 32% G;G 59%
  • Chinese (Denver)A;A 9% A;G 38% G;G 52%
  • Gujarati IndianA;A 7% A;G 50% G;G 43%
  • Luhya (Kenya)A;A 11% A;G 26% G;G 63%
  • Mexican ancestry (Los Angeles)A;A 2% A;G 30% G;G 68%
  • Maasai (Kenya)A;A 10% A;G 40% G;G 51%
  • TuscanA;A 1% A;G 28% G;G 71%

Conditions, medicines and genes

Notes

From SNPedia

Notes

Lumbar disc herniation (LDH), a form of lumbar disc disease, is one of the most common musculoskeletal diseases. rs1676486, a SNP also known as c.4603C-->T in the COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65).

A;A

increased risk of Lumbar Disk Herniation

Source and license

Adapted from rs1676486 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.