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rs730882035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Von Hippel-Lindau syndrome mutation
(G;G) 0 common in clinvar


Make rs730882035(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position10149805
GeneVHL
is asnp
is mentioned by
dbSNPrs730882035
dbSNP (classic)rs730882035
ClinGenrs730882035
ebirs730882035
HLIrs730882035
Exacrs730882035
Gnomadrs730882035
Varsomers730882035
LitVarrs730882035
Maprs730882035
PheGenIrs730882035
Biobankrs730882035
1000 genomesrs730882035
hgdprs730882035
ensemblrs730882035
geneviewrs730882035
scholarrs730882035
googlers730882035
pharmgkbrs730882035
gwascentralrs730882035
openSNPrs730882035
23andMers730882035
SNPshotrs730882035
SNPdbers730882035
MSV3drs730882035
GWAS Ctlgrs730882035
Max Magnitude7
ClinVar
Risk rs730882035(A;A)
Alt rs730882035(A;A)
Reference Rs730882035(G;G)
Significance Pathogenic
Disease not provided Von Hippel-Lindau syndrome Erythrocytosis
Variation info
Gene VHL
CLNDBN not provided Von Hippel-Lindau syndrome Erythrocytosis, familial, 2
Reversed 0
HGVS NC_000003.11:g.10191489G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000161092.2, RCV000208848.1, RCV000456958.1,