rs5030814

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	If from 23andMe, normal genotype
(G;T)	7	Von Hippel-Lindau syndrome mutation
(T;T)	0	common in clinvar

Make rs5030814(C;C)

Make rs5030814(C;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

10146638

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030814
dbSNP (classic)	rs5030814
ClinGen	rs5030814
ebi	rs5030814
HLI	rs5030814
Exac	rs5030814
Gnomad	rs5030814
Varsome	rs5030814
LitVar	rs5030814
Map	rs5030814
PheGenI	rs5030814
Biobank	rs5030814
1000 genomes	rs5030814
hgdp	rs5030814
ensembl	rs5030814
geneview	rs5030814
scholar	rs5030814
google	rs5030814
pharmgkb	rs5030814
gwascentral	rs5030814
openSNP	rs5030814
23andMe	rs5030814
SNPshot	rs5030814
SNPdbe	rs5030814
MSV3d	rs5030814
GWAS Ctlg	rs5030814

Max Magnitude

7

ClinVar
Risk	rs5030814(C;C)
Alt	rs5030814(C;C)
Reference	Rs5030814(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
CLNACC	RCV000036545.2,