rs281864951

Orientation

minus

Stabilized

minus

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

Make rs281864951(-;-)

Make rs281864951(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101796709

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864951
dbSNP (classic)	rs281864951
ClinGen	rs281864951
ebi	rs281864951
HLI	rs281864951
Exac	rs281864951
Gnomad	rs281864951
Varsome	rs281864951
LitVar	rs281864951
Map	rs281864951
PheGenI	rs281864951
Biobank	rs281864951
1000 genomes	rs281864951
hgdp	rs281864951
ensembl	rs281864951
geneview	rs281864951
scholar	rs281864951
google	rs281864951
pharmgkb	rs281864951
gwascentral	rs281864951
openSNP	rs281864951
23andMe	rs281864951
SNPshot	rs281864951
SNPdbe	rs281864951
MSV3d	rs281864951
GWAS Ctlg	rs281864951

Max Magnitude

0

ClinVar
Risk	rs281864951(-;-)
Alt	rs281864951(-;-)
Reference	Rs281864951(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102190487delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032304.1,

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