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rs35878526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35878526(C;T)
Make rs35878526(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101771097
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs35878526
ebirs35878526
HLIrs35878526
Exacrs35878526
Varsomers35878526
Maprs35878526
PheGenIrs35878526
hapmaprs35878526
1000 genomesrs35878526
hgdprs35878526
ensemblrs35878526
gopubmedrs35878526
geneviewrs35878526
scholarrs35878526
googlers35878526
pharmgkbrs35878526
gwascentralrs35878526
openSNPrs35878526
23andMers35878526
23andMe allrs35878526
SNP Nexus

SNPshotrs35878526
SNPdbers35878526
MSV3drs35878526
GWAS Ctlgrs35878526
Max Magnitude0
ClinVar
Risk rs35878526(T;T)
Alt rs35878526(T;T)
Reference rs35878526(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene GNPTAB
CLNDBN Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000012.11:g.102164875G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031991.2,



[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.