rs80356682

A SNP in the LAMB3 gene on chromosome 1. Its most notable genotype is A;A: epidermolysis bullosa

Gene
LAMB3
Location
Chr 1209,625,721 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadcarrier of epidermolysis bullosa alleleImportant · 3.0
  3. A;AMost notableBadepidermolysis bullosaVery important · 5.0

SNPedia records rs80356682 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other LAMB3 SNPs

All LAMB3 SNPs

Notes

From SNPedia

Notes

rs80356682, also known as R635X, is a SNP in the laminin, beta 3 LAMB3 gene. This SNP is termed i5012672 by 23andMe. The rare rs80356682(T) allele is a mutation associated with epidermolysis bullosa when co-inherited with another LAMB3 mutation. According to 23andMe, this SNP is relatively common, accounting for at least 30% of all Herlitz JEB-causing mutations, and it has been reported in individuals of European ancestry from many locations.

Source and license

Adapted from rs80356682 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.