rs281864982

Orientation

minus

Stabilized

minus

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

Make rs281864982(C;T)

Make rs281864982(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101765158

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864982
dbSNP (classic)	rs281864982
ClinGen	rs281864982
ebi	rs281864982
HLI	rs281864982
Exac	rs281864982
Gnomad	rs281864982
Varsome	rs281864982
LitVar	rs281864982
Map	rs281864982
PheGenI	rs281864982
Biobank	rs281864982
1000 genomes	rs281864982
hgdp	rs281864982
ensembl	rs281864982
geneview	rs281864982
scholar	rs281864982
google	rs281864982
pharmgkb	rs281864982
gwascentral	rs281864982
openSNP	rs281864982
23andMe	rs281864982
SNPshot	rs281864982
SNPdbe	rs281864982
MSV3d	rs281864982
GWAS Ctlg	rs281864982

Max Magnitude

0

ClinVar
Risk	rs281864982(T;T)
Alt	rs281864982(T;T)
Reference	Rs281864982(C;C)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102158936G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032305.1,

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