rs1060499688

Orientation

minus

Stabilized

minus

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

Make rs1060499688(C;C)

Make rs1060499688(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101753399

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499688
dbSNP (classic)	rs1060499688
ClinGen	rs1060499688
ebi	rs1060499688
HLI	rs1060499688
Exac	rs1060499688
Gnomad	rs1060499688
Varsome	rs1060499688
LitVar	rs1060499688
Map	rs1060499688
PheGenI	rs1060499688
Biobank	rs1060499688
1000 genomes	rs1060499688
hgdp	rs1060499688
ensembl	rs1060499688
geneview	rs1060499688
scholar	rs1060499688
google	rs1060499688
pharmgkb	rs1060499688
gwascentral	rs1060499688
openSNP	rs1060499688
23andMe	rs1060499688
SNPshot	rs1060499688
SNPdbe	rs1060499688
MSV3d	rs1060499688
GWAS Ctlg	rs1060499688

Max Magnitude

0

ClinVar
Risk	rs1060499688(C;C)
Alt	rs1060499688(C;C)
Reference	Rs1060499688(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.102147177A>G
CLNSRC
CLNACC	RCV000449510.1,