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rs281864976

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864976(-;-)
Make rs281864976(-;G)
Make rs281864976(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768113
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864976
ebirs281864976
HLIrs281864976
Exacrs281864976
Varsomers281864976
Maprs281864976
PheGenIrs281864976
hapmaprs281864976
1000 genomesrs281864976
hgdprs281864976
ensemblrs281864976
gopubmedrs281864976
geneviewrs281864976
scholarrs281864976
googlers281864976
pharmgkbrs281864976
gwascentralrs281864976
openSNPrs281864976
23andMers281864976
23andMe allrs281864976
SNP Nexus

SNPshotrs281864976
SNPdbers281864976
MSV3drs281864976
GWAS Ctlgrs281864976
Max Magnitude0
ClinVar
Risk rs281864976(G;G)
Alt rs281864976(G;G)
Reference rs281864976(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102161892dupC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032295.1,


[PMID 19634183] Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.