rs80338908
A SNP in the TEK gene on chromosome 9. Its most notable genotype is C;T: tendency for multiple cutaneous and mucosal venous malformations
- Gene
- TEK
- Location
- Chr 927,206,762 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadtendency for multiple cutaneous and mucosal venous malformations
On SNPedia: (C;C), (C;T). 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
rs80338908, also known as c.2545C>T, p.Arg849Trp and R849W, represents a mutation in the TEK gene on chromosome 9. The rare minor allele for this SNP is reported to cause Multiple cutaneous and mucosal venous malformations. Tie-1 and tie-2 define another class of putative receptor tyrosine kinase genes expressed in early embryonic vascular system. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Endothelial receptor tyrosine kinases activate the STAT signaling pathway: mutant Tie-2 causing venous malformations signals a distinct STAT activation response.
C;T
see rs80338908
Source and license
Adapted from rs80338908 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.