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rs34159654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34159654(A;C)
Make rs34159654(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101830666
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34159654
ebirs34159654
HLIrs34159654
Exacrs34159654
Varsomers34159654
Maprs34159654
PheGenIrs34159654
hapmaprs34159654
1000 genomesrs34159654
hgdprs34159654
ensemblrs34159654
gopubmedrs34159654
geneviewrs34159654
scholarrs34159654
googlers34159654
pharmgkbrs34159654
gwascentralrs34159654
openSNPrs34159654
23andMers34159654
23andMe allrs34159654
SNP Nexus

SNPshotrs34159654
SNPdbers34159654
MSV3drs34159654
GWAS Ctlgrs34159654
GMAF0.0004591
Max Magnitude0
OMIM607840
Desc
Variant0014
Relatedalso


ClinVar
Risk rs34159654(C;C)
Alt rs34159654(C;C)
Reference rs34159654(A;A)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy Mucopolysaccharidosis
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy Mucopolysaccharidosis, MPS-III-A
Reversed 1
HGVS NC_000012.11:g.102224444T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002903.3, RCV000031965.2,



[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.