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rs864622545

From SNPedia

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


Make rs864622545(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position10142105
GeneVHL
is asnp
is mentioned by
dbSNPrs864622545
dbSNP (classic)rs864622545
ClinGenrs864622545
ebirs864622545
HLIrs864622545
Exacrs864622545
Gnomadrs864622545
Varsomers864622545
LitVarrs864622545
Maprs864622545
PheGenIrs864622545
Biobankrs864622545
1000 genomesrs864622545
hgdprs864622545
ensemblrs864622545
geneviewrs864622545
scholarrs864622545
googlers864622545
pharmgkbrs864622545
gwascentralrs864622545
openSNPrs864622545
23andMers864622545
SNPshotrs864622545
SNPdbers864622545
MSV3drs864622545
GWAS Ctlgrs864622545
Max Magnitude7
ClinVar
Risk rs864622545(-;-)
Alt rs864622545(-;-)
Reference Rs864622545(C;C)
Significance Pathogenic
Disease Erythrocytosis Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183789delC
CLNSRC
CLNACC RCV000204033.2,