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rs5030824

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030824(C;G)
Make rs5030824(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149885
GeneVHL
is asnp
is mentioned by
dbSNPrs5030824
ebirs5030824
HLIrs5030824
Exacrs5030824
Varsomers5030824
Maprs5030824
PheGenIrs5030824
hapmaprs5030824
1000 genomesrs5030824
hgdprs5030824
ensemblrs5030824
gopubmedrs5030824
geneviewrs5030824
scholarrs5030824
googlers5030824
pharmgkbrs5030824
gwascentralrs5030824
openSNPrs5030824
23andMers5030824
23andMe allrs5030824
SNP Nexus

SNPshotrs5030824
SNPdbers5030824
MSV3drs5030824
GWAS Ctlgrs5030824
Max Magnitude0
OMIM608537
Desc
Variant0014
Relatedalso


ClinVar
Risk rs5030824(G;G)
Alt rs5030824(G;G)
Reference rs5030824(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Erythrocytosis Pheochromocytoma Hereditary cancer-predisposing syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 Pheochromocytoma Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.10191569C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002311.6, RCV000002312.3, RCV000002313.3, RCV000210199.1, RCV000225756.1,