rs5030820

Orientation

plus

Stabilized

plus

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

Make rs5030820(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149822

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030820
dbSNP (classic)	rs5030820
ClinGen	rs5030820
ebi	rs5030820
HLI	rs5030820
Exac	rs5030820
Gnomad	rs5030820
Varsome	rs5030820
LitVar	rs5030820
Map	rs5030820
PheGenI	rs5030820
Biobank	rs5030820
1000 genomes	rs5030820
hgdp	rs5030820
ensembl	rs5030820
geneview	rs5030820
scholar	rs5030820
google	rs5030820
pharmgkb	rs5030820
gwascentral	rs5030820
openSNP	rs5030820
23andMe	rs5030820
SNPshot	rs5030820
SNPdbe	rs5030820
MSV3d	rs5030820
GWAS Ctlg	rs5030820

Max Magnitude

7

OMIM	608537
Desc
Variant	0003
Related	also

OMIM	608537
Desc
Variant	0004
Related	also

ClinVar
Risk	rs5030820(G;G) rs5030820(T;T)
Alt	rs5030820(G;G) rs5030820(T;T)
Reference	Rs5030820(C;C)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Erythrocytosis Pheochromocytoma Hereditary cancer-predisposing syndrome not provided Renal cell carcinoma
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Erythrocytosis, familial, 2 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided Renal cell carcinoma
Reversed	0
HGVS	NC_000003.11:g.10191506C>G; NC_000003.11:g.10191506C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002304.2, RCV000466046.1, RCV000002302.3, RCV000002303.2, RCV000132159.6, RCV000213079.2, RCV000230005.2, RCV000435817.1,