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rs5030809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs5030809(C;C)
Make rs5030809(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142139
GeneVHL
is asnp
is mentioned by
dbSNPrs5030809
ebirs5030809
HLIrs5030809
Exacrs5030809
Varsomers5030809
Maprs5030809
PheGenIrs5030809
hapmaprs5030809
1000 genomesrs5030809
hgdprs5030809
ensemblrs5030809
gopubmedrs5030809
geneviewrs5030809
scholarrs5030809
googlers5030809
pharmgkbrs5030809
gwascentralrs5030809
openSNPrs5030809
23andMers5030809
23andMe allrs5030809
SNP Nexus

SNPshotrs5030809
SNPdbers5030809
MSV3drs5030809
GWAS Ctlgrs5030809
Max Magnitude0
OMIM608537
Desc
Variant0009
Relatedalso


ClinVar
Risk rs5030809(C;C)
Alt rs5030809(C;C)
Reference rs5030809(T;T)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.10183823T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000002309.6, RCV000161077.1,