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rs34517004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34517004(-;-)
Make rs34517004(-;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101771081
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs34517004
ebirs34517004
HLIrs34517004
Exacrs34517004
Varsomers34517004
Maprs34517004
PheGenIrs34517004
hapmaprs34517004
1000 genomesrs34517004
hgdprs34517004
ensemblrs34517004
gopubmedrs34517004
geneviewrs34517004
scholarrs34517004
googlers34517004
pharmgkbrs34517004
gwascentralrs34517004
openSNPrs34517004
23andMers34517004
23andMe allrs34517004
SNP Nexus

SNPshotrs34517004
SNPdbers34517004
MSV3drs34517004
GWAS Ctlgrs34517004
Max Magnitude0
ClinVar
Risk rs34517004(;)
Alt rs34517004(;)
Reference rs34517004(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102164859delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031992.2,


[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.