rs1060499680

Orientation

minus

Stabilized

minus

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

Make rs1060499680(G;T)

Make rs1060499680(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101768036

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499680
dbSNP (classic)	rs1060499680
ClinGen	rs1060499680
ebi	rs1060499680
HLI	rs1060499680
Exac	rs1060499680
Gnomad	rs1060499680
Varsome	rs1060499680
LitVar	rs1060499680
Map	rs1060499680
PheGenI	rs1060499680
Biobank	rs1060499680
1000 genomes	rs1060499680
hgdp	rs1060499680
ensembl	rs1060499680
geneview	rs1060499680
scholar	rs1060499680
google	rs1060499680
pharmgkb	rs1060499680
gwascentral	rs1060499680
openSNP	rs1060499680
23andMe	rs1060499680
SNPshot	rs1060499680
SNPdbe	rs1060499680
MSV3d	rs1060499680
GWAS Ctlg	rs1060499680

Max Magnitude

0

ClinVar
Risk	rs1060499680(T;T)
Alt	rs1060499680(T;T)
Reference	Rs1060499680(G;G)
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.102161814C>A
CLNSRC
CLNACC	RCV000449512.1,