rs281864998

Orientation

minus

Stabilized

minus

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

Make rs281864998(C;G)

Make rs281864998(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101764253

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864998
dbSNP (classic)	rs281864998
ClinGen	rs281864998
ebi	rs281864998
HLI	rs281864998
Exac	rs281864998
Gnomad	rs281864998
Varsome	rs281864998
LitVar	rs281864998
Map	rs281864998
PheGenI	rs281864998
Biobank	rs281864998
1000 genomes	rs281864998
hgdp	rs281864998
ensembl	rs281864998
geneview	rs281864998
scholar	rs281864998
google	rs281864998
pharmgkb	rs281864998
gwascentral	rs281864998
openSNP	rs281864998
23andMe	rs281864998
SNPshot	rs281864998
SNPdbe	rs281864998
MSV3d	rs281864998
GWAS Ctlg	rs281864998

Max Magnitude

0

ClinVar
Risk	rs281864998(G;G)
Alt	rs281864998(G;G)
Reference	Rs281864998(C;C)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102158031G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032321.1,

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