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rs869025617

From SNPedia

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


Make rs869025617(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position10142050
GeneVHL
is asnp
is mentioned by
dbSNPrs869025617
dbSNP (classic)rs869025617
ClinGenrs869025617
ebirs869025617
HLIrs869025617
Exacrs869025617
Gnomadrs869025617
Varsomers869025617
LitVarrs869025617
Maprs869025617
PheGenIrs869025617
Biobankrs869025617
1000 genomesrs869025617
hgdprs869025617
ensemblrs869025617
geneviewrs869025617
scholarrs869025617
googlers869025617
pharmgkbrs869025617
gwascentralrs869025617
openSNPrs869025617
23andMers869025617
SNPshotrs869025617
SNPdbers869025617
MSV3drs869025617
GWAS Ctlgrs869025617
Max Magnitude7
ClinVar
Risk rs869025617(A;A)
Alt rs869025617(A;A)
Reference Rs869025617(C;C)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10183734C>A
CLNSRC
CLNACC RCV000208815.1,