rs5030810

Orientation

plus

Stabilized

plus

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

Make rs5030810(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

10142184

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030810
dbSNP (classic)	rs5030810
ClinGen	rs5030810
ebi	rs5030810
HLI	rs5030810
Exac	rs5030810
Gnomad	rs5030810
Varsome	rs5030810
LitVar	rs5030810
Map	rs5030810
PheGenI	rs5030810
Biobank	rs5030810
1000 genomes	rs5030810
hgdp	rs5030810
ensembl	rs5030810
geneview	rs5030810
scholar	rs5030810
google	rs5030810
pharmgkb	rs5030810
gwascentral	rs5030810
openSNP	rs5030810
23andMe	rs5030810
SNPshot	rs5030810
SNPdbe	rs5030810
MSV3d	rs5030810
GWAS Ctlg	rs5030810

Max Magnitude

7

aka c.337C>T (p.Arg113Ter or R113X)

ClinVar
Risk	rs5030810(A;A) rs5030810(T;T)
Alt	rs5030810(A;A) rs5030810(T;T)
Reference	Rs5030810(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Erythrocytosis
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Erythrocytosis, familial, 2
Reversed	0
HGVS	NC_000003.11:g.10183868C>T
CLNSRC
CLNACC	RCV000204250.3, RCV000456132.1,