rs121912838
A SNP in the COL7A1 gene on chromosome 3. Its most notable genotype is C;T: Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation
- Gene
- COL7A1
- Location
- Chr 348,575,428 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadCarrier of a COL7A1 dystrophic epidermolysis bullosa mutation
- C;CGoodcommon in clinvar
SNPedia records rs121912838 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other COL7A1 SNPs
- rs121912828A;TCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912830G;TCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912833C;GCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912839C;TCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912840C;GCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912847A;GCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912849A;GCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
- rs121912851C;TCarrier of a COL7A1 dystrophic epidermolysis bullosa mutationImportant
Notes
From SNPedia
Notes
COL7A1 gene, c.6091G>A (p.Gly2031Ser) 23andMe name: i5004276
C;T
Unaffected in absence of a second COL7A1 mutation; see ClinVar sidebar on main SNP page.
Source and license
Adapted from rs121912838 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.