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rs5030832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Von Hippel-Lindau syndrome mutation
Make rs5030832(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10146535
GeneVHL
is asnp
is mentioned by
dbSNPrs5030832
dbSNP (classic)rs5030832
ClinGenrs5030832
ebirs5030832
HLIrs5030832
Exacrs5030832
Gnomadrs5030832
Varsomers5030832
LitVarrs5030832
Maprs5030832
PheGenIrs5030832
Biobankrs5030832
1000 genomesrs5030832
hgdprs5030832
ensemblrs5030832
geneviewrs5030832
scholarrs5030832
googlers5030832
pharmgkbrs5030832
gwascentralrs5030832
openSNPrs5030832
23andMers5030832
SNPshotrs5030832
SNPdbers5030832
MSV3drs5030832
GWAS Ctlgrs5030832
Max Magnitude7
ClinVar
Risk rs5030832(G;G)
Alt rs5030832(G;G)
Reference Rs5030832(A;A)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188219A>G
CLNSRC
CLNACC RCV000208830.1,