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rs5030820

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs5030820(C;T)
Make rs5030820(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10149822
GeneVHL
is asnp
is mentioned by
dbSNPrs5030820
ebirs5030820
HLIrs5030820
Exacrs5030820
Varsomers5030820
Maprs5030820
PheGenIrs5030820
hapmaprs5030820
1000 genomesrs5030820
hgdprs5030820
ensemblrs5030820
gopubmedrs5030820
geneviewrs5030820
scholarrs5030820
googlers5030820
pharmgkbrs5030820
gwascentralrs5030820
openSNPrs5030820
23andMers5030820
23andMe allrs5030820
SNP Nexus

SNPshotrs5030820
SNPdbers5030820
MSV3drs5030820
GWAS Ctlgrs5030820
Max Magnitude0
OMIM608537
Desc
Variant0003
Relatedalso
OMIM608537
Desc
Variant0004
Relatedalso


ClinVar
Risk rs5030820(G,T;G,T)
Alt rs5030820(G,T;G,T)
Reference rs5030820(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome not provided Erythrocytosis
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Pheochromocytoma Hereditary cancer-predisposing syndrome not provided Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10191506C>G; NC_000003.11:g.10191506C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002304.2, RCV000002302.3, RCV000002303.2, RCV000132159.4, RCV000213079.1, RCV000230005.1,