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rs137852899

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852899(A;A)
Make rs137852899(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764236
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs137852899
ebirs137852899
HLIrs137852899
Exacrs137852899
Varsomers137852899
Maprs137852899
PheGenIrs137852899
hapmaprs137852899
1000 genomesrs137852899
hgdprs137852899
ensemblrs137852899
gopubmedrs137852899
geneviewrs137852899
scholarrs137852899
googlers137852899
pharmgkbrs137852899
gwascentralrs137852899
openSNPrs137852899
23andMers137852899
23andMe allrs137852899
SNP Nexus

SNPshotrs137852899
SNPdbers137852899
MSV3drs137852899
GWAS Ctlgrs137852899
Max Magnitude0
OMIM607840
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852899(A;A)
Alt rs137852899(A;A)
Reference rs137852899(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158014C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002895.5,


[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.