rs398123481

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 rs398123481(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10142103

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs398123481
dbSNP (classic)	rs398123481
ClinGen	rs398123481
ebi	rs398123481
HLI	rs398123481
Exac	rs398123481
Gnomad	rs398123481
Varsome	rs398123481
LitVar	rs398123481
Map	rs398123481
PheGenI	rs398123481
Biobank	rs398123481
1000 genomes	rs398123481
hgdp	rs398123481
ensembl	rs398123481
geneview	rs398123481
scholar	rs398123481
google	rs398123481
pharmgkb	rs398123481
gwascentral	rs398123481
openSNP	rs398123481
23andMe	rs398123481
SNPshot	rs398123481
SNPdbe	rs398123481
MSV3d	rs398123481
GWAS Ctlg	rs398123481

Max Magnitude

7

ClinVar
Risk	rs398123481(G;G) rs398123481(T;T)
Alt	rs398123481(G;G) rs398123481(T;T)
Reference	Rs398123481(C;C)
Significance	Other
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.10183787C>G; NC_000003.11:g.10183787C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079208.5, RCV000155449.2, RCV000413630.1, RCV000492763.1,