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rs137852896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852896(C;T)
Make rs137852896(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101789951
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852896
ebirs137852896
HLIrs137852896
Exacrs137852896
Varsomers137852896
Maprs137852896
PheGenIrs137852896
hapmaprs137852896
1000 genomesrs137852896
hgdprs137852896
ensemblrs137852896
gopubmedrs137852896
geneviewrs137852896
scholarrs137852896
googlers137852896
pharmgkbrs137852896
gwascentralrs137852896
openSNPrs137852896
23andMers137852896
23andMe allrs137852896
SNP Nexus

SNPshotrs137852896
SNPdbers137852896
MSV3drs137852896
GWAS Ctlgrs137852896
Max Magnitude0
OMIM607840
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852896(T;T)
Alt rs137852896(T;T)
Reference rs137852896(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102183729G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002890.4,


[PMID 16116615] Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.