rs281864995

Orientation

minus

Stabilized

minus

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

Make rs281864995(-;-)

Make rs281864995(-;A)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101764373

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281864995
dbSNP (classic)	rs281864995
ClinGen	rs281864995
ebi	rs281864995
HLI	rs281864995
Exac	rs281864995
Gnomad	rs281864995
Varsome	rs281864995
LitVar	rs281864995
Map	rs281864995
PheGenI	rs281864995
Biobank	rs281864995
1000 genomes	rs281864995
hgdp	rs281864995
ensembl	rs281864995
geneview	rs281864995
scholar	rs281864995
google	rs281864995
pharmgkb	rs281864995
gwascentral	rs281864995
openSNP	rs281864995
23andMe	rs281864995
SNPshot	rs281864995
SNPdbe	rs281864995
MSV3d	rs281864995
GWAS Ctlg	rs281864995

Max Magnitude

0

ClinVar
Risk	rs281864995(-;-)
Alt	rs281864995(-;-)
Reference	Rs281864995(A;A)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102158151delT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032319.1,

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