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rs28940301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940301(C;G)
Make rs28940301(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149894
GeneVHL
is asnp
is mentioned by
dbSNPrs28940301
ebirs28940301
HLIrs28940301
Exacrs28940301
Varsomers28940301
Maprs28940301
PheGenIrs28940301
hapmaprs28940301
1000 genomesrs28940301
hgdprs28940301
ensemblrs28940301
gopubmedrs28940301
geneviewrs28940301
scholarrs28940301
googlers28940301
pharmgkbrs28940301
gwascentralrs28940301
openSNPrs28940301
23andMers28940301
23andMe allrs28940301
SNP Nexus

SNPshotrs28940301
SNPdbers28940301
MSV3drs28940301
GWAS Ctlgrs28940301
Max Magnitude0
OMIM608537
DescERYTHROCYTOSIS, FAMILIAL, 2
Variant0024
Relatedalso
Neighborrs28940300
Distance3


ClinVar
Risk rs28940301(G;G)
Alt rs28940301(G;G)
Reference rs28940301(C;C)
Significance Pathogenic
Disease Erythrocytosis
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10191578C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002323.3,