rs1060499685

Orientation

minus

Stabilized

minus

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

Make rs1060499685(-;-)

Make rs1060499685(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101764547

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499685
dbSNP (classic)	rs1060499685
ClinGen	rs1060499685
ebi	rs1060499685
HLI	rs1060499685
Exac	rs1060499685
Gnomad	rs1060499685
Varsome	rs1060499685
LitVar	rs1060499685
Map	rs1060499685
PheGenI	rs1060499685
Biobank	rs1060499685
1000 genomes	rs1060499685
hgdp	rs1060499685
ensembl	rs1060499685
geneview	rs1060499685
scholar	rs1060499685
google	rs1060499685
pharmgkb	rs1060499685
gwascentral	rs1060499685
openSNP	rs1060499685
23andMe	rs1060499685
SNPshot	rs1060499685
SNPdbe	rs1060499685
MSV3d	rs1060499685
GWAS Ctlg	rs1060499685

Max Magnitude

0

ClinVar
Risk	rs1060499685(-;-)
Alt	rs1060499685(-;-)
Reference	Rs1060499685(TT;TT)
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.102158325_102158326delAA
CLNSRC
CLNACC	RCV000449502.1,