rs193922608

Orientation

plus

Stabilized

plus

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

Make rs193922608(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142089

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs193922608
dbSNP (classic)	rs193922608
ClinGen	rs193922608
ebi	rs193922608
HLI	rs193922608
Exac	rs193922608
Gnomad	rs193922608
Varsome	rs193922608
LitVar	rs193922608
Map	rs193922608
PheGenI	rs193922608
Biobank	rs193922608
1000 genomes	rs193922608
hgdp	rs193922608
ensembl	rs193922608
geneview	rs193922608
scholar	rs193922608
google	rs193922608
pharmgkb	rs193922608
gwascentral	rs193922608
openSNP	rs193922608
23andMe	rs193922608
SNPshot	rs193922608
SNPdbe	rs193922608
MSV3d	rs193922608
GWAS Ctlg	rs193922608

Max Magnitude

7

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 Erythrocytosis
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Erythrocytosis, familial, 2
Reversed	0
HGVS	NC_000003.11:g.10183773C>T
CLNSRC	Ambry Genetics ClinVar LabCorp
CLNACC	RCV000030582.2, RCV000129974.4, RCV000474633.1,

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