rs5030813

Orientation

plus

Stabilized

plus

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

Make rs5030813(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

10146567

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030813
dbSNP (classic)	rs5030813
ClinGen	rs5030813
ebi	rs5030813
HLI	rs5030813
Exac	rs5030813
Gnomad	rs5030813
Varsome	rs5030813
LitVar	rs5030813
Map	rs5030813
PheGenI	rs5030813
Biobank	rs5030813
1000 genomes	rs5030813
hgdp	rs5030813
ensembl	rs5030813
geneview	rs5030813
scholar	rs5030813
google	rs5030813
pharmgkb	rs5030813
gwascentral	rs5030813
openSNP	rs5030813
23andMe	rs5030813
SNPshot	rs5030813
SNPdbe	rs5030813
MSV3d	rs5030813
GWAS Ctlg	rs5030813

Max Magnitude

7

ClinVar
Risk	rs5030813(T;T)
Alt	rs5030813(T;T)
Reference	Rs5030813(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.10188251C>T
CLNSRC
CLNACC	RCV000404768.1,