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rs281864972

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864972(-;-)
Make rs281864972(-;T)
Make rs281864972(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770098
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864972
ebirs281864972
HLIrs281864972
Exacrs281864972
Varsomers281864972
Maprs281864972
PheGenIrs281864972
hapmaprs281864972
1000 genomesrs281864972
hgdprs281864972
ensemblrs281864972
gopubmedrs281864972
geneviewrs281864972
scholarrs281864972
googlers281864972
pharmgkbrs281864972
gwascentralrs281864972
openSNPrs281864972
23andMers281864972
23andMe allrs281864972
SNP Nexus

SNPshotrs281864972
SNPdbers281864972
MSV3drs281864972
GWAS Ctlgrs281864972
Max Magnitude0
ClinVar
Risk rs281864972(T;T)
Alt rs281864972(T;T)
Reference rs281864972(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102163877dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032290.1,


[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.