rs281865014

Orientation

minus

Stabilized

minus

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

Make rs281865014(-;A)

Make rs281865014(A;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101757579

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865014
dbSNP (classic)	rs281865014
ClinGen	rs281865014
ebi	rs281865014
HLI	rs281865014
Exac	rs281865014
Gnomad	rs281865014
Varsome	rs281865014
LitVar	rs281865014
Map	rs281865014
PheGenI	rs281865014
Biobank	rs281865014
1000 genomes	rs281865014
hgdp	rs281865014
ensembl	rs281865014
geneview	rs281865014
scholar	rs281865014
google	rs281865014
pharmgkb	rs281865014
gwascentral	rs281865014
openSNP	rs281865014
23andMe	rs281865014
SNPshot	rs281865014
SNPdbe	rs281865014
MSV3d	rs281865014
GWAS Ctlg	rs281865014

Merged from

Rs587777914

Max Magnitude

0

ClinVar
Risk	rs281865014(A;A)
Alt	rs281865014(A;A)
Reference	Rs281865014(-;-)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102151357dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032335.1,

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