rs281864970

Orientation

minus

Stabilized

minus

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

Make rs281864970(A;A)

Make rs281864970(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101770518

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864970
dbSNP (classic)	rs281864970
ClinGen	rs281864970
ebi	rs281864970
HLI	rs281864970
Exac	rs281864970
Gnomad	rs281864970
Varsome	rs281864970
LitVar	rs281864970
Map	rs281864970
PheGenI	rs281864970
Biobank	rs281864970
1000 genomes	rs281864970
hgdp	rs281864970
ensembl	rs281864970
geneview	rs281864970
scholar	rs281864970
google	rs281864970
pharmgkb	rs281864970
gwascentral	rs281864970
openSNP	rs281864970
23andMe	rs281864970
SNPshot	rs281864970
SNPdbe	rs281864970
MSV3d	rs281864970
GWAS Ctlg	rs281864970

Max Magnitude

0

ClinVar
Risk	rs281864970(A;A) rs281864970(T;T)
Alt	rs281864970(A;A) rs281864970(T;T)
Reference	Rs281864970(G;G)
Significance	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.102164296C>A; NC_000012.11:g.102164296C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032284.1, RCV000032283.1,

[PMID 19617216] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

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