rs137852900

Orientation

minus

Stabilized

minus

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

Make rs137852900(C;C)

Make rs137852900(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101770185

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs137852900
dbSNP (classic)	rs137852900
ClinGen	rs137852900
ebi	rs137852900
HLI	rs137852900
Exac	rs137852900
Gnomad	rs137852900
Varsome	rs137852900
LitVar	rs137852900
Map	rs137852900
PheGenI	rs137852900
Biobank	rs137852900
1000 genomes	rs137852900
hgdp	rs137852900
ensembl	rs137852900
geneview	rs137852900
scholar	rs137852900
google	rs137852900
pharmgkb	rs137852900
gwascentral	rs137852900
openSNP	rs137852900
23andMe	rs137852900
SNPshot	rs137852900
SNPdbe	rs137852900
MSV3d	rs137852900
GWAS Ctlg	rs137852900

Max Magnitude

0

OMIM	607840
Desc
Variant	0015
Related	also

ClinVar
Risk	rs137852900(C;C)
Alt	rs137852900(C;C)
Reference	Rs137852900(T;T)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	Pseudo-Hurler polydystrophy I cell disease
Reversed	1
HGVS	NC_000012.11:g.102163963A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002904.3, RCV000002905.3,

[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.