rs397516441

Orientation

plus

Stabilized

plus

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

Make rs397516441(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149790

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs397516441
dbSNP (classic)	rs397516441
ClinGen	rs397516441
ebi	rs397516441
HLI	rs397516441
Exac	rs397516441
Gnomad	rs397516441
Varsome	rs397516441
LitVar	rs397516441
Map	rs397516441
PheGenI	rs397516441
Biobank	rs397516441
1000 genomes	rs397516441
hgdp	rs397516441
ensembl	rs397516441
geneview	rs397516441
scholar	rs397516441
google	rs397516441
pharmgkb	rs397516441
gwascentral	rs397516441
openSNP	rs397516441
23andMe	rs397516441
SNPshot	rs397516441
SNPdbe	rs397516441
MSV3d	rs397516441
GWAS Ctlg	rs397516441

Max Magnitude

7

ClinVar
Risk	rs397516441(G;G)
Alt	rs397516441(G;G)
Reference	Rs397516441(A;A)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10191474A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036543.3, RCV000487045.1, RCV000492752.1,