{{Rsnum
|rsid = 28940298
|Gene = VHL
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=3
|position=10149921
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=VHL
}}{{omim
|desc=POLYCYTHEMIA, CHUVASH TYPE
|id=608537
|rsnum=28940298
|variant=0019
}}
{{ neighbor
| rsid = 28940300
| distance = 24
}}

{{ClinVar
|rsid=28940298
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=10191605
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050268000000000002110100
|GENEINFO=VHL:7428
|GENE_NAME=VHL
|GENE_ID=7428
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.10191605C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=608537.0019
|CLNSIG=5
|CLNCUI=C1837915
|CLNDBN=Erythrocytosis, familial, 2
|Disease=Erythrocytosis
|CLNACC=RCV000002320.2
|Tags=PM;PMC;S3D;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1837915:263400:238557
}}

{{PMID|18998488}} Two hypoxia sensor genes and their association with symptoms of acute mountain sickness in Sherpas.

{{PMID|1034090}} [3 cases of fenestration of the vertebral artery].

{{PMID|7553625}} Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.

{{PMID|9137812}} Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene.

{{PMID|12415268}} Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

{{PMID|14726398}} Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

{{PMID|15611513}} Role of VHL gene mutation in human cancer.

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}