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rs34946266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34946266(A;T)
Make rs34946266(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101786014
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34946266
ebirs34946266
HLIrs34946266
Exacrs34946266
Varsomers34946266
Maprs34946266
PheGenIrs34946266
hapmaprs34946266
1000 genomesrs34946266
hgdprs34946266
ensemblrs34946266
gopubmedrs34946266
geneviewrs34946266
scholarrs34946266
googlers34946266
pharmgkbrs34946266
gwascentralrs34946266
openSNPrs34946266
23andMers34946266
23andMe allrs34946266
SNP Nexus

SNPshotrs34946266
SNPdbers34946266
MSV3drs34946266
GWAS Ctlgrs34946266
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs34946266(G,T;G,T)
Alt rs34946266(G,T;G,T)
Reference rs34946266(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNPTAB
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000012.11:g.102179792T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031988.2,



[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.