rs398123482

Orientation

plus

Stabilized

plus

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

Make rs398123482(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142173

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs398123482
dbSNP (classic)	rs398123482
ClinGen	rs398123482
ebi	rs398123482
HLI	rs398123482
Exac	rs398123482
Gnomad	rs398123482
Varsome	rs398123482
LitVar	rs398123482
Map	rs398123482
PheGenI	rs398123482
Biobank	rs398123482
1000 genomes	rs398123482
hgdp	rs398123482
ensembl	rs398123482
geneview	rs398123482
scholar	rs398123482
google	rs398123482
pharmgkb	rs398123482
gwascentral	rs398123482
openSNP	rs398123482
23andMe	rs398123482
SNPshot	rs398123482
SNPdbe	rs398123482
MSV3d	rs398123482
GWAS Ctlg	rs398123482

Max Magnitude

7

ClinVar
Risk	rs398123482(A;A)
Alt	rs398123482(A;A)
Reference	Rs398123482(T;T)
Significance	Probable-Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183857T>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000079209.4,