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rs281864964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864964(-;-)
Make rs281864964(-;A)
Make rs281864964(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780173
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864964
ebirs281864964
HLIrs281864964
Exacrs281864964
Varsomers281864964
Maprs281864964
PheGenIrs281864964
hapmaprs281864964
1000 genomesrs281864964
hgdprs281864964
ensemblrs281864964
gopubmedrs281864964
geneviewrs281864964
scholarrs281864964
googlers281864964
pharmgkbrs281864964
gwascentralrs281864964
openSNPrs281864964
23andMers281864964
23andMe allrs281864964
SNP Nexus

SNPshotrs281864964
SNPdbers281864964
MSV3drs281864964
GWAS Ctlgrs281864964
Max Magnitude0
ClinVar
Risk rs281864964(A;A)
Alt rs281864964(A;A)
Reference rs281864964(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102173952dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032354.2,


[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.