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rs36007394

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs36007394(-;-)
Make rs36007394(-;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101766123
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs36007394
ebirs36007394
HLIrs36007394
Exacrs36007394
Varsomers36007394
Maprs36007394
PheGenIrs36007394
hapmaprs36007394
1000 genomesrs36007394
hgdprs36007394
ensemblrs36007394
gopubmedrs36007394
geneviewrs36007394
scholarrs36007394
googlers36007394
pharmgkbrs36007394
gwascentralrs36007394
openSNPrs36007394
23andMers36007394
23andMe allrs36007394
SNP Nexus

SNPshotrs36007394
SNPdbers36007394
MSV3drs36007394
GWAS Ctlgrs36007394
Max Magnitude0
ClinVar
Risk rs36007394(;)
Alt rs36007394(;)
Reference rs36007394(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102159901delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000031968.2,


[PMID 16465621OA-icon.png] Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.