rs1060499689

Orientation

minus

Stabilized

minus

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

Make rs1060499689(C;T)

Make rs1060499689(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101753435

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499689
dbSNP (classic)	rs1060499689
ClinGen	rs1060499689
ebi	rs1060499689
HLI	rs1060499689
Exac	rs1060499689
Gnomad	rs1060499689
Varsome	rs1060499689
LitVar	rs1060499689
Map	rs1060499689
PheGenI	rs1060499689
Biobank	rs1060499689
1000 genomes	rs1060499689
hgdp	rs1060499689
ensembl	rs1060499689
geneview	rs1060499689
scholar	rs1060499689
google	rs1060499689
pharmgkb	rs1060499689
gwascentral	rs1060499689
openSNP	rs1060499689
23andMe	rs1060499689
SNPshot	rs1060499689
SNPdbe	rs1060499689
MSV3d	rs1060499689
GWAS Ctlg	rs1060499689

Max Magnitude

0

ClinVar
Risk	rs1060499689(T;T)
Alt	rs1060499689(T;T)
Reference	Rs1060499689(C;C)
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.102147213G>A
CLNSRC
CLNACC	RCV000449550.1,