rs121912840

A SNP in the COL7A1 gene on chromosome 3. Its most notable genotype is C;G: Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation

Gene
COL7A1
Location
Chr 348,581,483 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;GMost notableBadCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs121912840 on the minus strand: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other COL7A1 SNPs

All COL7A1 SNPs

Notes

From SNPedia

Notes

COL7A1 gene, c.4783G>C (p.Gly1595Arg) 23andMe name: i5004274 Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.

C;G

Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.

Source and license

Adapted from rs121912840 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.