rs1060499681

Orientation

minus

Stabilized

minus

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

Make rs1060499681(-;-)

Make rs1060499681(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101764303

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs1060499681
dbSNP (classic)	rs1060499681
ClinGen	rs1060499681
ebi	rs1060499681
HLI	rs1060499681
Exac	rs1060499681
Gnomad	rs1060499681
Varsome	rs1060499681
LitVar	rs1060499681
Map	rs1060499681
PheGenI	rs1060499681
Biobank	rs1060499681
1000 genomes	rs1060499681
hgdp	rs1060499681
ensembl	rs1060499681
geneview	rs1060499681
scholar	rs1060499681
google	rs1060499681
pharmgkb	rs1060499681
gwascentral	rs1060499681
openSNP	rs1060499681
23andMe	rs1060499681
SNPshot	rs1060499681
SNPdbe	rs1060499681
MSV3d	rs1060499681
GWAS Ctlg	rs1060499681

Max Magnitude

0

ClinVar
Risk	rs1060499681(-;-)
Alt	rs1060499681(-;-)
Reference	Rs1060499681(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.102158081delC
CLNSRC
CLNACC	RCV000449625.1,