rs5030824

Orientation

plus

Stabilized

plus

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

Make rs5030824(C;G)

Make rs5030824(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149885

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030824
dbSNP (classic)	rs5030824
ClinGen	rs5030824
ebi	rs5030824
HLI	rs5030824
Exac	rs5030824
Gnomad	rs5030824
Varsome	rs5030824
LitVar	rs5030824
Map	rs5030824
PheGenI	rs5030824
Biobank	rs5030824
1000 genomes	rs5030824
hgdp	rs5030824
ensembl	rs5030824
geneview	rs5030824
scholar	rs5030824
google	rs5030824
pharmgkb	rs5030824
gwascentral	rs5030824
openSNP	rs5030824
23andMe	rs5030824
SNPshot	rs5030824
SNPdbe	rs5030824
MSV3d	rs5030824
GWAS Ctlg	rs5030824

Max Magnitude

0

OMIM	608537
Desc
Variant	0014
Related	also

ClinVar
Risk	rs5030824(G;G)
Alt	rs5030824(G;G)
Reference	Rs5030824(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Erythrocytosis Pheochromocytoma Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 Pheochromocytoma Hereditary cancer-predisposing syndrome not specified
Reversed	0
HGVS	NC_000003.11:g.10191569C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002311.6, RCV000002312.3, RCV000002313.3, RCV000210199.1, RCV000225756.2, RCV000480890.1,