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rs281865039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865039(-;-)
Make rs281865039(-;A)
Make rs281865039(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101753407
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865039
ebirs281865039
HLIrs281865039
Exacrs281865039
Varsomers281865039
Maprs281865039
PheGenIrs281865039
hapmaprs281865039
1000 genomesrs281865039
hgdprs281865039
ensemblrs281865039
gopubmedrs281865039
geneviewrs281865039
scholarrs281865039
googlers281865039
pharmgkbrs281865039
gwascentralrs281865039
openSNPrs281865039
23andMers281865039
23andMe allrs281865039
SNP Nexus

SNPshotrs281865039
SNPdbers281865039
MSV3drs281865039
GWAS Ctlgrs281865039
Max Magnitude0
ClinVar
Risk rs281865039(A;A)
Alt rs281865039(A;A)
Reference rs281865039(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102147185dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000031985.2,


[PMID 16200072] Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.