rs281864969

Orientation

minus

Stabilized

minus

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

Make rs281864969(C;T)

Make rs281864969(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101770519

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864969
dbSNP (classic)	rs281864969
ClinGen	rs281864969
ebi	rs281864969
HLI	rs281864969
Exac	rs281864969
Gnomad	rs281864969
Varsome	rs281864969
LitVar	rs281864969
Map	rs281864969
PheGenI	rs281864969
Biobank	rs281864969
1000 genomes	rs281864969
hgdp	rs281864969
ensembl	rs281864969
geneview	rs281864969
scholar	rs281864969
google	rs281864969
pharmgkb	rs281864969
gwascentral	rs281864969
openSNP	rs281864969
23andMe	rs281864969
SNPshot	rs281864969
SNPdbe	rs281864969
MSV3d	rs281864969
GWAS Ctlg	rs281864969

Max Magnitude

0

ClinVar
Risk	rs281864969(T;T)
Alt	rs281864969(T;T)
Reference	Rs281864969(C;C)
Significance	Pathogenic
Disease	Pseudo-Hurler polydystrophy not provided I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	Pseudo-Hurler polydystrophy not provided I cell disease
Reversed	1
HGVS	NC_000012.11:g.102164297G>A
CLNSRC	HGMD
CLNACC	RCV000032282.1, RCV000082184.3, RCV000180686.1,

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