rs5030821
A SNP in the VHL gene on chromosome 3. Its most notable genotype is A;G: Von Hippel-Lindau syndrome mutation
- Gene
- VHL
- Location
- Chr 310,149,823 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadVon Hippel-Lindau syndrome mutation
- C;GBadVon Hippel-Lindau syndrome mutation
- G;GGoodcommon in clinvar
- G;TBadVon Hippel-Lindau syndrome mutation
On SNPedia: (A;G), (C;G), (G;G), (G;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.500G>T (p.Arg167Leu or R167L), as well as c.500G>C (p.Arg167Pro or R167P), as well as c.500G>A (p.Arg167Gln or R167Q), all of which are considered pathogenic 23andMe name for c.500G>A variant: i3003391
Source and license
Adapted from rs5030821 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.