rs1060503552

Orientation

plus

Stabilized

plus

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

Make rs1060503552(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

10142073

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs1060503552
dbSNP (classic)	rs1060503552
ClinGen	rs1060503552
ebi	rs1060503552
HLI	rs1060503552
Exac	rs1060503552
Gnomad	rs1060503552
Varsome	rs1060503552
LitVar	rs1060503552
Map	rs1060503552
PheGenI	rs1060503552
Biobank	rs1060503552
1000 genomes	rs1060503552
hgdp	rs1060503552
ensembl	rs1060503552
geneview	rs1060503552
scholar	rs1060503552
google	rs1060503552
pharmgkb	rs1060503552
gwascentral	rs1060503552
openSNP	rs1060503552
23andMe	rs1060503552
SNPshot	rs1060503552
SNPdbe	rs1060503552
MSV3d	rs1060503552
GWAS Ctlg	rs1060503552

Max Magnitude

7

ClinVar
Risk	rs1060503552(-;-)
Alt	rs1060503552(-;-)
Reference	Rs1060503552(TT;TT)
Significance	Pathogenic
Disease	Erythrocytosis Von Hippel-Lindau syndrome
Variation	info
Gene	VHL
CLNDBN	Erythrocytosis, familial, 2 Von Hippel-Lindau syndrome
Reversed	0
HGVS	NC_000003.11:g.10183757_10183758delTT
CLNSRC
CLNACC	RCV000462489.1,