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rs397516442

From SNPedia

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


Make rs397516442(-;-)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146581
GeneVHL
is asnp
is mentioned by
dbSNPrs397516442
dbSNP (classic)rs397516442
ClinGenrs397516442
ebirs397516442
HLIrs397516442
Exacrs397516442
Gnomadrs397516442
Varsomers397516442
LitVarrs397516442
Maprs397516442
PheGenIrs397516442
Biobankrs397516442
1000 genomesrs397516442
hgdprs397516442
ensemblrs397516442
geneviewrs397516442
scholarrs397516442
googlers397516442
pharmgkbrs397516442
gwascentralrs397516442
openSNPrs397516442
23andMers397516442
SNPshotrs397516442
SNPdbers397516442
MSV3drs397516442
GWAS Ctlgrs397516442
Max Magnitude7
ClinVar
Risk rs397516442(-;-)
Alt rs397516442(-;-)
Reference Rs397516442(T;T)
Significance Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188265delT
CLNSRC ClinVar
CLNACC RCV000036544.2,