rs281865003

Orientation

minus

Stabilized

minus

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

Make rs281865003(A;G)

Make rs281865003(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101761696

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865003
dbSNP (classic)	rs281865003
ClinGen	rs281865003
ebi	rs281865003
HLI	rs281865003
Exac	rs281865003
Gnomad	rs281865003
Varsome	rs281865003
LitVar	rs281865003
Map	rs281865003
PheGenI	rs281865003
Biobank	rs281865003
1000 genomes	rs281865003
hgdp	rs281865003
ensembl	rs281865003
geneview	rs281865003
scholar	rs281865003
google	rs281865003
pharmgkb	rs281865003
gwascentral	rs281865003
openSNP	rs281865003
23andMe	rs281865003
SNPshot	rs281865003
SNPdbe	rs281865003
MSV3d	rs281865003
GWAS Ctlg	rs281865003

Max Magnitude

0

ClinVar
Risk	rs281865003(G;G)
Alt	rs281865003(G;G)
Reference	Rs281865003(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102155474T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000032360.1,

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