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rs193922611

From SNPedia

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


Make rs193922611(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146631
GeneVHL
is asnp
is mentioned by
dbSNPrs193922611
dbSNP (classic)rs193922611
ClinGenrs193922611
ebirs193922611
HLIrs193922611
Exacrs193922611
Gnomadrs193922611
Varsomers193922611
LitVarrs193922611
Maprs193922611
PheGenIrs193922611
Biobankrs193922611
1000 genomesrs193922611
hgdprs193922611
ensemblrs193922611
geneviewrs193922611
scholarrs193922611
googlers193922611
pharmgkbrs193922611
gwascentralrs193922611
openSNPrs193922611
23andMers193922611
SNPshotrs193922611
SNPdbers193922611
MSV3drs193922611
GWAS Ctlgrs193922611
Max Magnitude7
ClinVar
Risk rs193922611(A;A)
Alt rs193922611(A;A)
Reference Rs193922611(T;T)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188315T>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030587.1,