rs281865015

Orientation

minus

Stabilized

minus

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

Make rs281865015(-;C)

Make rs281865015(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101757257

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865015
dbSNP (classic)	rs281865015
ClinGen	rs281865015
ebi	rs281865015
HLI	rs281865015
Exac	rs281865015
Gnomad	rs281865015
Varsome	rs281865015
LitVar	rs281865015
Map	rs281865015
PheGenI	rs281865015
Biobank	rs281865015
1000 genomes	rs281865015
hgdp	rs281865015
ensembl	rs281865015
geneview	rs281865015
scholar	rs281865015
google	rs281865015
pharmgkb	rs281865015
gwascentral	rs281865015
openSNP	rs281865015
23andMe	rs281865015
SNPshot	rs281865015
SNPdbe	rs281865015
MSV3d	rs281865015
GWAS Ctlg	rs281865015

Max Magnitude

0

ClinVar
Risk	rs281865015(C;C)
Alt	rs281865015(C;C)
Reference	Rs281865015(-;-)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102151035_102151036insG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032361.1,

[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.