rs112543062

Orientation

plus

Stabilized

plus

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

Make rs112543062(C;C)

Make rs112543062(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

101770161

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs112543062
dbSNP (classic)	rs112543062
ClinGen	rs112543062
ebi	rs112543062
HLI	rs112543062
Exac	rs112543062
Gnomad	rs112543062
Varsome	rs112543062
LitVar	rs112543062
Map	rs112543062
PheGenI	rs112543062
Biobank	rs112543062
1000 genomes	rs112543062
hgdp	rs112543062
ensembl	rs112543062
geneview	rs112543062
scholar	rs112543062
google	rs112543062
pharmgkb	rs112543062
gwascentral	rs112543062
openSNP	rs112543062
23andMe	rs112543062
SNPshot	rs112543062
SNPdbe	rs112543062
MSV3d	rs112543062
GWAS Ctlg	rs112543062

Max Magnitude

0

ClinVar
Risk	rs112543062(C;C) rs112543062(G;G)
Alt	rs112543062(C;C) rs112543062(G;G)
Reference	Rs112543062(T;T)
Significance	Probable-Pathogenic
Disease	not specified I cell disease Pseudo-Hurler polydystrophy
Variation	info
Gene	GNPTAB
CLNDBN	not specified I cell disease Pseudo-Hurler polydystrophy
Reversed	0
HGVS	NC_000012.11:g.102163939T>G
CLNSRC
CLNACC	RCV000173897.1, RCV000449633.1,