rs5030804

Orientation

plus

Stabilized

plus

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

Make rs5030804(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

10142080

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030804
dbSNP (classic)	rs5030804
ClinGen	rs5030804
ebi	rs5030804
HLI	rs5030804
Exac	rs5030804
Gnomad	rs5030804
Varsome	rs5030804
LitVar	rs5030804
Map	rs5030804
PheGenI	rs5030804
Biobank	rs5030804
1000 genomes	rs5030804
hgdp	rs5030804
ensembl	rs5030804
geneview	rs5030804
scholar	rs5030804
google	rs5030804
pharmgkb	rs5030804
gwascentral	rs5030804
openSNP	rs5030804
23andMe	rs5030804
SNPshot	rs5030804
SNPdbe	rs5030804
MSV3d	rs5030804
GWAS Ctlg	rs5030804

Max Magnitude

7

ClinVar
Risk	rs5030804(C;C) rs5030804(G;G) rs5030804(T;T)
Alt	rs5030804(C;C) rs5030804(G;G) rs5030804(T;T)
Reference	Rs5030804(A;A)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome not provided Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome not provided Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10183764A>C; NC_000003.11:g.10183764A>G; NC_000003.11:g.10183764A>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000208838.1, RCV000079207.5, RCV000254892.2, RCV000492165.1, RCV000208821.1,