rs5030818
A SNP in the VHL gene on chromosome 3. Its most notable genotype is C;T: Von Hippel-Lindau syndrome mutation
- Gene
- VHL
- Location
- Chr 310,149,804 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T). 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
Notes
aka c.481C>T (p.Arg161Ter or R161X) note 23andMe tests a different variant, c.481C>G, under the name i3003389 Detection and semiquantitative estimation of thyroxine and diiodothyronine in liothyronine sodium. A novel mutation in the von Hippel-Lindau gene. Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. The pressure rises: update on the genetics of phaeochromocytoma. A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.
Source and license
Adapted from rs5030818 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.