rs193922609

Orientation

plus

Stabilized

plus

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

Make rs193922609(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142167

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs193922609
dbSNP (classic)	rs193922609
ClinGen	rs193922609
ebi	rs193922609
HLI	rs193922609
Exac	rs193922609
Gnomad	rs193922609
Varsome	rs193922609
LitVar	rs193922609
Map	rs193922609
PheGenI	rs193922609
Biobank	rs193922609
1000 genomes	rs193922609
hgdp	rs193922609
ensembl	rs193922609
geneview	rs193922609
scholar	rs193922609
google	rs193922609
pharmgkb	rs193922609
gwascentral	rs193922609
openSNP	rs193922609
23andMe	rs193922609
SNPshot	rs193922609
SNPdbe	rs193922609
MSV3d	rs193922609
GWAS Ctlg	rs193922609

Max Magnitude

7

ClinVar
Risk	rs193922609(A;A) rs193922609(C;C)
Alt	rs193922609(A;A) rs193922609(C;C)
Reference	Rs193922609(G;G)
Significance	Other
Disease	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.10183851G>A; NC_000003.11:g.10183851G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000208864.1, RCV000492448.1, RCV000030583.2, RCV000486047.1, RCV000492682.1,

[PMID 9829911] Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

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

[PMID 18836774] Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.