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rs28940298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940298(C;T)
Make rs28940298(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149921
GeneVHL
is asnp
is mentioned by
dbSNPrs28940298
ClinGenrs28940298
ebirs28940298
HLIrs28940298
Exacrs28940298
Varsomers28940298
Maprs28940298
PheGenIrs28940298
hapmaprs28940298
1000 genomesrs28940298
hgdprs28940298
ensemblrs28940298
gopubmedrs28940298
geneviewrs28940298
scholarrs28940298
googlers28940298
pharmgkbrs28940298
gwascentralrs28940298
openSNPrs28940298
23andMers28940298
23andMe allrs28940298
SNP Nexus

SNPshotrs28940298
SNPdbers28940298
MSV3drs28940298
GWAS Ctlgrs28940298
Max Magnitude0
OMIM608537
DescPOLYCYTHEMIA, CHUVASH TYPE
Variant0019
Relatedalso
Neighborrs28940300
Distance24


ClinVar
Risk rs28940298(T;T)
Alt rs28940298(T;T)
Reference Rs28940298(C;C)
Significance Pathogenic
Disease Erythrocytosis not specified Von Hippel-Lindau syndrome not provided
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2 not specified Von Hippel-Lindau syndrome not provided
Reversed 0
HGVS NC_000003.11:g.10191605C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002320.5, RCV000122262.2, RCV000148922.4, RCV000161094.3,



[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.