rs5030819

Orientation

plus

Stabilized

plus

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

Make rs5030819(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

10149813

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030819
dbSNP (classic)	rs5030819
ClinGen	rs5030819
ebi	rs5030819
HLI	rs5030819
Exac	rs5030819
Gnomad	rs5030819
Varsome	rs5030819
LitVar	rs5030819
Map	rs5030819
PheGenI	rs5030819
Biobank	rs5030819
1000 genomes	rs5030819
hgdp	rs5030819
ensembl	rs5030819
geneview	rs5030819
scholar	rs5030819
google	rs5030819
pharmgkb	rs5030819
gwascentral	rs5030819
openSNP	rs5030819
23andMe	rs5030819
SNPshot	rs5030819
SNPdbe	rs5030819
MSV3d	rs5030819
GWAS Ctlg	rs5030819

Max Magnitude

7

ClinVar
Risk	rs5030819(T;T)
Alt	rs5030819(T;T)
Reference	Rs5030819(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome not provided
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.10191497C>T
CLNSRC
CLNACC	RCV000208820.1, RCV000485182.1,