rs28940298
A SNP in the VHL gene on chromosome 3. Its most notable genotype is C;C: common in clinvar
- Gene
- VHL
- Location
- Chr 310,149,921 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other VHL SNPs
- rs5030802A;GVon Hippel-Lindau syndrome mutationVery important
- rs5030804A;CVon Hippel-Lindau syndrome mutationVery important
- rs5030807A;TVon Hippel-Lindau syndrome mutationVery important
- rs5030808A;GVon Hippel-Lindau syndrome mutationVery important
- rs5030809C;TVon Hippel-Lindau syndrome mutationVery important
- rs5030810C;TVon Hippel-Lindau syndrome mutationVery important
- rs5030812A;CVon Hippel-Lindau syndrome mutationVery important
- rs5030813C;TVon Hippel-Lindau syndrome mutationVery important
Notes
From SNPedia
Show notes, about 120 words
Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas. [3 cases of fenestration of the vertebral artery]. Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene. Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors. Role of VHL gene mutation in human cancer.
Source and license
Adapted from rs28940298 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.