rs5030809

Orientation

plus

Stabilized

plus

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

Make rs5030809(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142139

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030809
dbSNP (classic)	rs5030809
ClinGen	rs5030809
ebi	rs5030809
HLI	rs5030809
Exac	rs5030809
Gnomad	rs5030809
Varsome	rs5030809
LitVar	rs5030809
Map	rs5030809
PheGenI	rs5030809
Biobank	rs5030809
1000 genomes	rs5030809
hgdp	rs5030809
ensembl	rs5030809
geneview	rs5030809
scholar	rs5030809
google	rs5030809
pharmgkb	rs5030809
gwascentral	rs5030809
openSNP	rs5030809
23andMe	rs5030809
SNPshot	rs5030809
SNPdbe	rs5030809
MSV3d	rs5030809
GWAS Ctlg	rs5030809

Max Magnitude

7

OMIM	608537
Desc
Variant	0009
Related	also

ClinVar
Risk	rs5030809(C;C)
Alt	rs5030809(C;C)
Reference	Rs5030809(T;T)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Erythrocytosis Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10183823T>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002309.6, RCV000474095.1, RCV000492094.1,