rs281865007

Orientation

minus

Stabilized

minus

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

Make rs281865007(A;G)

Make rs281865007(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101761209

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865007
dbSNP (classic)	rs281865007
ClinGen	rs281865007
ebi	rs281865007
HLI	rs281865007
Exac	rs281865007
Gnomad	rs281865007
Varsome	rs281865007
LitVar	rs281865007
Map	rs281865007
PheGenI	rs281865007
Biobank	rs281865007
1000 genomes	rs281865007
hgdp	rs281865007
ensembl	rs281865007
geneview	rs281865007
scholar	rs281865007
google	rs281865007
pharmgkb	rs281865007
gwascentral	rs281865007
openSNP	rs281865007
23andMe	rs281865007
SNPshot	rs281865007
SNPdbe	rs281865007
MSV3d	rs281865007
GWAS Ctlg	rs281865007

Max Magnitude

0

ClinVar
Risk	rs281865007(G;G)
Alt	rs281865007(G;G)
Reference	Rs281865007(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102154987T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000034157.2,

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