rs1800255

A SNP in the COL3A1 gene on chromosome 2. Its most notable genotype is A;A: increased risk for pelvic organ prolapse

Gene
COL3A1
Location
Chr 2188,999,354 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, FamilyTreeDNA
Minor allele frequency
21%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadincreased risk for pelvic organ prolapseWorth knowing · 2.54% of people
  2. A;GNot ratedbenignMinor · 1.030% of people
  3. G;GGoodnormalTypical · 0.066% 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 4% A;G 30% G;G 66%
  • European ancestry (Utah)A;A 6% A;G 37% G;G 57%
  • Han Chinese (Beijing)A;A 2% A;G 36% G;G 62%
  • Japanese (Tokyo)A;A 6% A;G 47% G;G 47%
  • Yoruba (Nigeria)A;A 0% A;G 22% G;G 78%
  • African ancestry (Southwest US)A;A 0% A;G 13% G;G 87%
  • Chinese (Denver)A;A 6% A;G 36% G;G 58%
  • Gujarati IndianA;A 9% A;G 39% G;G 52%
  • Luhya (Kenya)A;A 0% A;G 14% G;G 86%
  • Mexican ancestry (Los Angeles)A;A 11% A;G 29% G;G 61%
  • Maasai (Kenya)A;A 0% A;G 15% G;G 85%
  • TuscanA;A 2% A;G 46% G;G 53%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs1800255, aka c.2092G>A, A698T or p.Ala698Thr, is a SNP in the alpha I chain of the type III collagen protein-encoding COL3A1 gene. A relatively small study (200 patients) reported an odds ratio of 5 (CI: 1.4-17.1) between rs1800255(A;A) homozygotes and risk for pelvic organ prolapse. No significance was found for the heterozygous genotype. A meta-analysis published in 2014 reported that the rs1800255(A;A) genotype was associated with pelvic organ prolapse (OR 4.79; CI: 1.91-11.98, p = .001) compared with the reference genotype (G;G) in populations of Asian and Dutch women.

A;G

In heterozygous form, this is considered a benign (or "likely benign") SNP.

Source and license

Adapted from rs1800255 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.