rs80338909
A SNP in the TEK gene on chromosome 9. Its most notable genotype is A;C: tendency for multiple cutaneous and mucosal venous malformations
- Gene
- TEK
- Location
- Chr 927,212,710 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadtendency for multiple cutaneous and mucosal venous malformations
- A;GBadtendency for multiple cutaneous and mucosal venous malformations
On SNPedia: (A;A), (A;C), (A;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs80338909, also known as c.2690A>G, p.Tyr897Cys and Y897C, as well as c.2690A>C, Tyr897Ser and Y897S, represents a mutation in the TEK gene on chromosome 9. Both the rare (G) and (C) minor alleles for this SNP are reported to cause Multiple cutaneous and mucosal venous malformations. Allelic and locus heterogeneity in inherited venous malformations.
A;C
see rs80338909
A;G
see rs80338909
Source and license
Adapted from rs80338909 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.