rs281865033

Orientation

minus

Stabilized

minus

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

Make rs281865033(-;C)

Make rs281865033(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101760133

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865033
dbSNP (classic)	rs281865033
ClinGen	rs281865033
ebi	rs281865033
HLI	rs281865033
Exac	rs281865033
Gnomad	rs281865033
Varsome	rs281865033
LitVar	rs281865033
Map	rs281865033
PheGenI	rs281865033
Biobank	rs281865033
1000 genomes	rs281865033
hgdp	rs281865033
ensembl	rs281865033
geneview	rs281865033
scholar	rs281865033
google	rs281865033
pharmgkb	rs281865033
gwascentral	rs281865033
openSNP	rs281865033
23andMe	rs281865033
SNPshot	rs281865033
SNPdbe	rs281865033
MSV3d	rs281865033
GWAS Ctlg	rs281865033

Max Magnitude

0

ClinVar
Risk	rs281865033(C;C)
Alt	rs281865033(C;C)
Reference	Rs281865033(-;-)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102153911_102153912insG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031978.2,

[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.