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rs794727253

From SNPedia

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


Make rs794727253(-;-)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position10146622
GeneVHL
is asnp
is mentioned by
dbSNPrs794727253
dbSNP (classic)rs794727253
ClinGenrs794727253
ebirs794727253
HLIrs794727253
Exacrs794727253
Gnomadrs794727253
Varsomers794727253
LitVarrs794727253
Maprs794727253
PheGenIrs794727253
Biobankrs794727253
1000 genomesrs794727253
hgdprs794727253
ensemblrs794727253
geneviewrs794727253
scholarrs794727253
googlers794727253
pharmgkbrs794727253
gwascentralrs794727253
openSNPrs794727253
23andMers794727253
SNPshotrs794727253
SNPdbers794727253
MSV3drs794727253
GWAS Ctlgrs794727253
Max Magnitude7
ClinVar
Risk rs794727253(-;-)
Alt rs794727253(-;-)
Reference Rs794727253(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.10188306delA
CLNSRC
CLNACC RCV000175633.1,