rs397516443

Orientation

plus

Stabilized

plus

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

Make rs397516443(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10146638

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs397516443
dbSNP (classic)	rs397516443
ClinGen	rs397516443
ebi	rs397516443
HLI	rs397516443
Exac	rs397516443
Gnomad	rs397516443
Varsome	rs397516443
LitVar	rs397516443
Map	rs397516443
PheGenI	rs397516443
Biobank	rs397516443
1000 genomes	rs397516443
hgdp	rs397516443
ensembl	rs397516443
geneview	rs397516443
scholar	rs397516443
google	rs397516443
pharmgkb	rs397516443
gwascentral	rs397516443
openSNP	rs397516443
23andMe	rs397516443
SNPshot	rs397516443
SNPdbe	rs397516443
MSV3d	rs397516443
GWAS Ctlg	rs397516443

Max Magnitude

7

same as rs5030814 and as of Oct 2018 merged into it in dbSNP

ClinVar
Risk	rs397516443(G;G)
Alt	rs397516443(G;G)
Reference	Rs397516443(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.10188322T>G
CLNSRC	ClinVar
CLNACC	RCV000036545.2,