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rs281864983

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAGT;TAGT) 0 common in clinvar
Make rs281864983(-;-)
Make rs281864983(-;TAGT)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764955
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864983
ebirs281864983
HLIrs281864983
Exacrs281864983
Varsomers281864983
Maprs281864983
PheGenIrs281864983
hapmaprs281864983
1000 genomesrs281864983
hgdprs281864983
ensemblrs281864983
gopubmedrs281864983
geneviewrs281864983
scholarrs281864983
googlers281864983
pharmgkbrs281864983
gwascentralrs281864983
openSNPrs281864983
23andMers281864983
23andMe allrs281864983
SNP Nexus

SNPshotrs281864983
SNPdbers281864983
MSV3drs281864983
GWAS Ctlgrs281864983
Max Magnitude0
ClinVar
Risk rs281864983(;)
Alt rs281864983(;)
Reference rs281864983(TAGT;TAGT)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158733_102158736delACTA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032306.1,


[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.