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rs281865037

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865037(A;A)
Make rs281865037(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753540
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865037
ebirs281865037
HLIrs281865037
Exacrs281865037
Varsomers281865037
Maprs281865037
PheGenIrs281865037
hapmaprs281865037
1000 genomesrs281865037
hgdprs281865037
ensemblrs281865037
gopubmedrs281865037
geneviewrs281865037
scholarrs281865037
googlers281865037
pharmgkbrs281865037
gwascentralrs281865037
openSNPrs281865037
23andMers281865037
23andMe allrs281865037
SNP Nexus

SNPshotrs281865037
SNPdbers281865037
MSV3drs281865037
GWAS Ctlgrs281865037
Max Magnitude0
ClinVar
Risk rs281865037(A;A)
Alt rs281865037(A;A)
Reference rs281865037(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNPTAB
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000012.11:g.102147318C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000031984.2,


[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.