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rs281865024

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
(AGAC;AGAC) 0 common in clinvar
Make rs281865024(-;-)
Make rs281865024(-;CAGA)
Make rs281865024(CAGA;CAGA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780581
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865024
ebirs281865024
HLIrs281865024
Exacrs281865024
Varsomers281865024
Maprs281865024
PheGenIrs281865024
hapmaprs281865024
1000 genomesrs281865024
hgdprs281865024
ensemblrs281865024
gopubmedrs281865024
geneviewrs281865024
scholarrs281865024
googlers281865024
pharmgkbrs281865024
gwascentralrs281865024
openSNPrs281865024
23andMers281865024
23andMe allrs281865024
SNP Nexus

SNPshotrs281865024
SNPdbers281865024
MSV3drs281865024
GWAS Ctlgrs281865024
Max Magnitude0
ClinVar
Risk rs281865024(;)
Alt rs281865024(;)
Reference rs281865024(ACAG;ACAG)
Significance Pathogenic
Disease I cell disease not provided
Variation info
Gene GNPTAB
CLNDBN I cell disease not provided
Reversed 1
HGVS NC_000012.11:g.102174352_102174355delCTGT
CLNSRC HGMD
CLNACC RCV000031989.3, RCV000082195.3,


[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.