rs398123483

Orientation

plus

Stabilized

plus

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

Make rs398123483(TTGTCCGT;TTGTCCGT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10149824

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs398123483
dbSNP (classic)	rs398123483
ClinGen	rs398123483
ebi	rs398123483
HLI	rs398123483
Exac	rs398123483
Gnomad	rs398123483
Varsome	rs398123483
LitVar	rs398123483
Map	rs398123483
PheGenI	rs398123483
Biobank	rs398123483
1000 genomes	rs398123483
hgdp	rs398123483
ensembl	rs398123483
geneview	rs398123483
scholar	rs398123483
google	rs398123483
pharmgkb	rs398123483
gwascentral	rs398123483
openSNP	rs398123483
23andMe	rs398123483
SNPshot	rs398123483
SNPdbe	rs398123483
MSV3d	rs398123483
GWAS Ctlg	rs398123483

Max Magnitude

7

ClinVar
Risk	rs398123483(TTGTCCGT;TTGTCCGT)
Alt	rs398123483(TTGTCCGT;TTGTCCGT)
Reference	Rs398123483(-;-)
Significance	Pathogenic
Disease	Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10191508_10191509insTTGTCCGT
CLNSRC	HGMD
CLNACC	RCV000079210.5,