rs193922613

Orientation

plus

Stabilized

plus

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

Make rs193922613(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149847

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs193922613
dbSNP (classic)	rs193922613
ClinGen	rs193922613
ebi	rs193922613
HLI	rs193922613
Exac	rs193922613
Gnomad	rs193922613
Varsome	rs193922613
LitVar	rs193922613
Map	rs193922613
PheGenI	rs193922613
Biobank	rs193922613
1000 genomes	rs193922613
hgdp	rs193922613
ensembl	rs193922613
geneview	rs193922613
scholar	rs193922613
google	rs193922613
pharmgkb	rs193922613
gwascentral	rs193922613
openSNP	rs193922613
23andMe	rs193922613
SNPshot	rs193922613
SNPdbe	rs193922613
MSV3d	rs193922613
GWAS Ctlg	rs193922613

Max Magnitude

7

ClinVar
Risk	rs193922613(G;G)
Alt	rs193922613(G;G)
Reference	Rs193922613(A;A)
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.10191531A>G
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030589.1, RCV000492408.1,

[PMID 14722919] Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

[PMID 15642680] Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

[PMID 16210343] Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

[PMID 17640059] Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.