rs397516440

Orientation

plus

Stabilized

plus

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

Make rs397516440(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142166

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs397516440
dbSNP (classic)	rs397516440
ClinGen	rs397516440
ebi	rs397516440
HLI	rs397516440
Exac	rs397516440
Gnomad	rs397516440
Varsome	rs397516440
LitVar	rs397516440
Map	rs397516440
PheGenI	rs397516440
Biobank	rs397516440
1000 genomes	rs397516440
hgdp	rs397516440
ensembl	rs397516440
geneview	rs397516440
scholar	rs397516440
google	rs397516440
pharmgkb	rs397516440
gwascentral	rs397516440
openSNP	rs397516440
23andMe	rs397516440
SNPshot	rs397516440
SNPdbe	rs397516440
MSV3d	rs397516440
GWAS Ctlg	rs397516440

Max Magnitude

7

ClinVar
Risk	rs397516440(G;G)
Alt	rs397516440(G;G)
Reference	Rs397516440(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183850C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036542.3,