rs5030816

Orientation

plus

Stabilized

plus

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

Make rs5030816(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

10149785

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030816
dbSNP (classic)	rs5030816
ClinGen	rs5030816
ebi	rs5030816
HLI	rs5030816
Exac	rs5030816
Gnomad	rs5030816
Varsome	rs5030816
LitVar	rs5030816
Map	rs5030816
PheGenI	rs5030816
Biobank	rs5030816
1000 genomes	rs5030816
hgdp	rs5030816
ensembl	rs5030816
geneview	rs5030816
scholar	rs5030816
google	rs5030816
pharmgkb	rs5030816
gwascentral	rs5030816
openSNP	rs5030816
23andMe	rs5030816
SNPshot	rs5030816
SNPdbe	rs5030816
MSV3d	rs5030816
GWAS Ctlg	rs5030816

Max Magnitude

7

ClinVar
Risk	rs5030816(G;G) rs5030816(T;T)
Alt	rs5030816(G;G) rs5030816(T;T)
Reference	Rs5030816(A;A)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10191469A>G
CLNSRC
CLNACC	RCV000208810.1, RCV000216737.1,