rs281865027

Orientation

minus

Stabilized

minus

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

Make rs281865027(-;C)

Make rs281865027(C;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

101765291

Gene

GNPTAB

is a	snp
is	mentioned by
dbSNP	rs281865027
dbSNP (classic)	rs281865027
ClinGen	rs281865027
ebi	rs281865027
HLI	rs281865027
Exac	rs281865027
Gnomad	rs281865027
Varsome	rs281865027
LitVar	rs281865027
Map	rs281865027
PheGenI	rs281865027
Biobank	rs281865027
1000 genomes	rs281865027
hgdp	rs281865027
ensembl	rs281865027
geneview	rs281865027
scholar	rs281865027
google	rs281865027
pharmgkb	rs281865027
gwascentral	rs281865027
openSNP	rs281865027
23andMe	rs281865027
SNPshot	rs281865027
SNPdbe	rs281865027
MSV3d	rs281865027
GWAS Ctlg	rs281865027

Max Magnitude

0

ClinVar
Risk	rs281865027(C;C)
Alt	rs281865027(C;C)
Reference	Rs281865027(-;-)
Significance	Pathogenic
Disease	I cell disease
Variation	info
Gene	GNPTAB
CLNDBN	I cell disease
Reversed	1
HGVS	NC_000012.11:g.102159069_102159070insG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002898.4,

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