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rs137852898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852898(C;G)
Make rs137852898(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760106
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852898
ebirs137852898
HLIrs137852898
Exacrs137852898
Varsomers137852898
Maprs137852898
PheGenIrs137852898
hapmaprs137852898
1000 genomesrs137852898
hgdprs137852898
ensemblrs137852898
gopubmedrs137852898
geneviewrs137852898
scholarrs137852898
googlers137852898
pharmgkbrs137852898
gwascentralrs137852898
openSNPrs137852898
23andMers137852898
23andMe allrs137852898
SNP Nexus

SNPshotrs137852898
SNPdbers137852898
MSV3drs137852898
GWAS Ctlgrs137852898
Max Magnitude0
OMIM607840
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852898(G;G)
Alt rs137852898(G;G)
Reference rs137852898(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153884G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002893.4,


[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.