rs281864994

Orientation

minus

Stabilized

minus

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

Make rs281864994(-;-)

Make rs281864994(-;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101764490

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864994
dbSNP (classic)	rs281864994
ClinGen	rs281864994
ebi	rs281864994
HLI	rs281864994
Exac	rs281864994
Gnomad	rs281864994
Varsome	rs281864994
LitVar	rs281864994
Map	rs281864994
PheGenI	rs281864994
Biobank	rs281864994
1000 genomes	rs281864994
hgdp	rs281864994
ensembl	rs281864994
geneview	rs281864994
scholar	rs281864994
google	rs281864994
pharmgkb	rs281864994
gwascentral	rs281864994
openSNP	rs281864994
23andMe	rs281864994
SNPshot	rs281864994
SNPdbe	rs281864994
MSV3d	rs281864994
GWAS Ctlg	rs281864994

Max Magnitude

0

ClinVar
Risk	rs281864994(-;-)
Alt	rs281864994(-;-)
Reference	Rs281864994(C;C)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102158268delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032317.1,

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