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rs281864977

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864977(G;G)
Make rs281864977(G;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768064
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864977
ebirs281864977
HLIrs281864977
Exacrs281864977
Varsomers281864977
Maprs281864977
PheGenIrs281864977
hapmaprs281864977
1000 genomesrs281864977
hgdprs281864977
ensemblrs281864977
gopubmedrs281864977
geneviewrs281864977
scholarrs281864977
googlers281864977
pharmgkbrs281864977
gwascentralrs281864977
openSNPrs281864977
23andMers281864977
23andMe allrs281864977
SNP Nexus

SNPshotrs281864977
SNPdbers281864977
MSV3drs281864977
GWAS Ctlgrs281864977
Max Magnitude0
ClinVar
Risk rs281864977(G;G)
Alt rs281864977(G;G)
Reference rs281864977(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102161842A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032297.1,


[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.