rs5030648

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(TCT;TCT)	0	common in clinvar

Make rs5030648(-;-)

Make rs5030648(-;TCT)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

10142074

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030648
dbSNP (classic)	rs5030648
ClinGen	rs5030648
ebi	rs5030648
HLI	rs5030648
Exac	rs5030648
Gnomad	rs5030648
Varsome	rs5030648
LitVar	rs5030648
Map	rs5030648
PheGenI	rs5030648
Biobank	rs5030648
1000 genomes	rs5030648
hgdp	rs5030648
ensembl	rs5030648
geneview	rs5030648
scholar	rs5030648
google	rs5030648
pharmgkb	rs5030648
gwascentral	rs5030648
openSNP	rs5030648
23andMe	rs5030648
SNPshot	rs5030648
SNPdbe	rs5030648
MSV3d	rs5030648
GWAS Ctlg	rs5030648

Max Magnitude

0

ClinVar
Risk	rs5030648(-;-)
Alt	rs5030648(-;-)
Reference	Rs5030648(TCT;TCT)
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.10183758_10183760delTCT
CLNSRC
CLNACC	RCV000208790.1, RCV000469401.1,