rs2228561
A SNP in the COL7A1 gene on chromosome 3. Its most notable genotype is G;G: common on affy axiom data
- Gene
- COL7A1
- Location
- Chr 348,590,581 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 7%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableGoodcommon on affy axiom data
- C;CNot ratedNo summary available.
- A;ANot ratedNo summary available.
SNPedia records rs2228561 on the minus strand: (C;C), (G;G), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageG;G 86% C;C 0% A;A 1%
- European ancestry (Utah)G;G 81% C;C 0% A;A 2%
- Han Chinese (Beijing)G;G 93% C;C 0% A;A 0%
- Japanese (Tokyo)G;G 97% C;C 0% A;A <1%
- Yoruba (Nigeria)G;G 100% C;C 0% A;A 0%
- African ancestry (Southwest US)G;G 86% C;C 0% A;A 0%
- Chinese (Denver)G;G 96% C;C 0% A;A 0%
- Gujarati IndianG;G 56% C;C 0% A;A 8%
- Luhya (Kenya)G;G 91% C;C 0% A;A 0%
- Mexican ancestry (Los Angeles)G;G 85% C;C 0% A;A 0%
- Maasai (Kenya)G;G 88% C;C 0% A;A <1%
- TuscanG;G 77% C;C 0% A;A 2%
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
- rs121912838C;TCarrier 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
Notes
From SNPedia
Notes
Common variation in oxidative phosphorylation genes is not a major cause of insulin resistance or type 2 diabetes.
Source and license
Adapted from rs2228561 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.