rs5030817

Orientation

plus

Stabilized

plus

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

Make rs5030817(A;A)

Reference

GRCh38 38.1/142

Chromosome

3

Position

10149786

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030817
dbSNP (classic)	rs5030817
ClinGen	rs5030817
ebi	rs5030817
HLI	rs5030817
Exac	rs5030817
Gnomad	rs5030817
Varsome	rs5030817
LitVar	rs5030817
Map	rs5030817
PheGenI	rs5030817
Biobank	rs5030817
1000 genomes	rs5030817
hgdp	rs5030817
ensembl	rs5030817
geneview	rs5030817
scholar	rs5030817
google	rs5030817
pharmgkb	rs5030817
gwascentral	rs5030817
openSNP	rs5030817
23andMe	rs5030817
SNPshot	rs5030817
SNPdbe	rs5030817
MSV3d	rs5030817
GWAS Ctlg	rs5030817

Max Magnitude

7

ClinVar
Risk	rs5030817(A;A) rs5030817(C;C) rs5030817(T;T)
Alt	rs5030817(A;A) rs5030817(C;C) rs5030817(T;T)
Reference	Rs5030817(G;G)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10191470G>A; NC_000003.11:g.10191470G>C; NC_000003.11:g.10191470G>T
CLNSRC	COSMIC
CLNACC	RCV000036546.3, RCV000208828.1, RCV000208870.1,