rs121912771

A SNP in the COL17A1 gene on chromosome 10. Its most notable genotype is C;T: Carrier of a junctional Epidermolysis bullosa mutation

Gene
COL17A1
Location
Chr 10104,034,193 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of a junctional Epidermolysis bullosa mutationImportant · 3.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs121912771 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other COL17A1 SNPs

All COL17A1 SNPs

Notes

From SNPedia

Notes

aka c.3908G>A (p.Arg1303Gln or R1303Q) This COL17A1 mutation is considered to cause late-onset, mild junctional epidermolysis bullosa (JEB), and it is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, based on a 2018 study.

C;T

Unaffected in absence of a second COL17A1 gene mutation

Source and license

Adapted from rs121912771 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.