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rs193922610

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922610(C;T)
Make rs193922610(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10146544
GeneVHL
is asnp
is mentioned by
dbSNPrs193922610
ebirs193922610
HLIrs193922610
Exacrs193922610
Varsomers193922610
Maprs193922610
PheGenIrs193922610
hapmaprs193922610
1000 genomesrs193922610
hgdprs193922610
ensemblrs193922610
gopubmedrs193922610
geneviewrs193922610
scholarrs193922610
googlers193922610
pharmgkbrs193922610
gwascentralrs193922610
openSNPrs193922610
23andMers193922610
23andMe allrs193922610
SNP Nexus

SNPshotrs193922610
SNPdbers193922610
MSV3drs193922610
GWAS Ctlgrs193922610
Max Magnitude0
ClinVar
Risk rs193922610(T;T)
Alt rs193922610(T;T)
Reference rs193922610(C;C)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome
Reversed 0
HGVS NC_000003.11:g.10188228C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000030585.1,


[PMID 12624160OA-icon.png] High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.