rs1060499684

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs1060499684(-;-)

Make rs1060499684(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101753525

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499684
dbSNP (classic)	rs1060499684
ClinGen	rs1060499684
ebi	rs1060499684
HLI	rs1060499684
Exac	rs1060499684
Gnomad	rs1060499684
Varsome	rs1060499684
LitVar	rs1060499684
Map	rs1060499684
PheGenI	rs1060499684
Biobank	rs1060499684
1000 genomes	rs1060499684
hgdp	rs1060499684
ensembl	rs1060499684
geneview	rs1060499684
scholar	rs1060499684
google	rs1060499684
pharmgkb	rs1060499684
gwascentral	rs1060499684
openSNP	rs1060499684
23andMe	rs1060499684
SNPshot	rs1060499684
SNPdbe	rs1060499684
MSV3d	rs1060499684
GWAS Ctlg	rs1060499684

Max Magnitude

0

ClinVar
Risk	rs1060499684(-;-)
Alt	rs1060499684(-;-)
Reference	Rs1060499684(T;T)
Significance	Probable-Pathogenic
Disease	I cell disease Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease Pseudo-Hurler polydystrophy
Reversed	1
HGVS	NC_000012.11:g.102147303delA
CLNSRC
CLNACC	RCV000449595.1,