rs5030802

Orientation

plus

Stabilized

plus

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

Make rs5030802(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142055

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs5030802
dbSNP (classic)	rs5030802
ClinGen	rs5030802
ebi	rs5030802
HLI	rs5030802
Exac	rs5030802
Gnomad	rs5030802
Varsome	rs5030802
LitVar	rs5030802
Map	rs5030802
PheGenI	rs5030802
Biobank	rs5030802
1000 genomes	rs5030802
hgdp	rs5030802
ensembl	rs5030802
geneview	rs5030802
scholar	rs5030802
google	rs5030802
pharmgkb	rs5030802
gwascentral	rs5030802
openSNP	rs5030802
23andMe	rs5030802
SNPshot	rs5030802
SNPdbe	rs5030802
MSV3d	rs5030802
GWAS Ctlg	rs5030802

Max Magnitude

7

ClinVar
Risk	rs5030802(A;A) rs5030802(T;T)
Alt	rs5030802(A;A) rs5030802(T;T)
Reference	Rs5030802(G;G)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.10183739G>A; NC_000003.11:g.10183739G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000036540.3, RCV000492137.1, RCV000492695.1,