rs121912880

A SNP in the COL2A1 gene on chromosome 12. Its most notable genotype is C;T: Spondylometaphyseal dysplasia possible

Gene
COL2A1
Location
Chr 1247,986,353 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadSpondylometaphyseal dysplasia possibleVery important · 5.0
  2. C;CGoodcommon in clinvarTypical · 0.0
  3. A;CBadSpondylometaphyseal dysplasia possibleVery important · 5.0

SNPedia records rs121912880 on the minus strand: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other COL2A1 SNPs

All COL2A1 SNPs

Notes

From SNPedia

Notes

aka c.1510G>A (p.Gly504Ser or G504S), also c.1510G>T (p.Gly504Cys or G504C); both are considered in ClinVar as dominantly inherited mutations pathogenic for Spondylometaphyseal dysplasia and/or Stickler syndrome type I

C;T

see text and links via main rs-page

A;C

see text and links via main rs-page

Source and license

Adapted from rs121912880 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.