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rs281864990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864990(-;-)
Make rs281864990(-;GA)
Make rs281864990(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764695
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864990
ebirs281864990
HLIrs281864990
Exacrs281864990
Varsomers281864990
Maprs281864990
PheGenIrs281864990
hapmaprs281864990
1000 genomesrs281864990
hgdprs281864990
ensemblrs281864990
gopubmedrs281864990
geneviewrs281864990
scholarrs281864990
googlers281864990
pharmgkbrs281864990
gwascentralrs281864990
openSNPrs281864990
23andMers281864990
23andMe allrs281864990
SNP Nexus

SNPshotrs281864990
SNPdbers281864990
MSV3drs281864990
GWAS Ctlgrs281864990
Max Magnitude0
ClinVar
Risk rs281864990(GA;GA)
Alt rs281864990(GA;GA)
Reference rs281864990(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158474_102158475dupTC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032312.1,


[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.