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rs193922608

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922608(C;T)
Make rs193922608(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position10142089
GeneVHL
is asnp
is mentioned by
dbSNPrs193922608
ebirs193922608
HLIrs193922608
Exacrs193922608
Varsomers193922608
Maprs193922608
PheGenIrs193922608
hapmaprs193922608
1000 genomesrs193922608
hgdprs193922608
ensemblrs193922608
gopubmedrs193922608
geneviewrs193922608
scholarrs193922608
googlers193922608
pharmgkbrs193922608
gwascentralrs193922608
openSNPrs193922608
23andMers193922608
23andMe allrs193922608
SNP Nexus

SNPshotrs193922608
SNPdbers193922608
MSV3drs193922608
GWAS Ctlgrs193922608
Max Magnitude0
ClinVar
Risk rs193922608(T;T)
Alt rs193922608(T;T)
Reference rs193922608(C;C)
Significance Probable-Pathogenic
Disease Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene VHL
CLNDBN Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.10183773C>T
CLNSRC Ambry Genetics ClinVar LabCorp
CLNACC RCV000030582.2, RCV000129974.2,


[PMID 17102082] Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.