rs5030814
A SNP in the VHL gene on chromosome 3. Its most notable genotype is G;T: Von Hippel-Lindau syndrome mutation
- Gene
- VHL
- Location
- Chr 310,146,638 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodIf from 23andMe, normal genotype
- G;TMost notableBadVon Hippel-Lindau syndrome mutation
- T;TGoodcommon in clinvar
On SNPedia: (G;G), (G;T), (T;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
G;G
If viewed in a Promethease report, and from 23andMe data, this represents an error by 23andMe, in that they associate rs5030814 with chromosomal position GRCh37 3:10188321, whereas it is actually designated in the NIH dbSNP database as being at position 3:10188322. At position 3:10188321, the normal genotype on the plus/fwd strand is (G;G). That is not the normal genotype for rs5030814, however, if it is properly annotated. If your data is not from 23andMe, feel free to contact us to discuss this.
Source and license
Adapted from rs5030814 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.