rs281864959

Orientation

minus

Stabilized

minus

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

Make rs281864959(A;C)

Make rs281864959(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101780579

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864959
dbSNP (classic)	rs281864959
ClinGen	rs281864959
ebi	rs281864959
HLI	rs281864959
Exac	rs281864959
Gnomad	rs281864959
Varsome	rs281864959
LitVar	rs281864959
Map	rs281864959
PheGenI	rs281864959
Biobank	rs281864959
1000 genomes	rs281864959
hgdp	rs281864959
ensembl	rs281864959
geneview	rs281864959
scholar	rs281864959
google	rs281864959
pharmgkb	rs281864959
gwascentral	rs281864959
openSNP	rs281864959
23andMe	rs281864959
SNPshot	rs281864959
SNPdbe	rs281864959
MSV3d	rs281864959
GWAS Ctlg	rs281864959

Max Magnitude

0

ClinVar
Risk	rs281864959(C;C)
Alt	rs281864959(C;C)
Reference	Rs281864959(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102174357T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032362.1,

[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.