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rs281864981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864981(C;T)
Make rs281864981(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101766184
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864981
ebirs281864981
HLIrs281864981
Exacrs281864981
Varsomers281864981
Maprs281864981
PheGenIrs281864981
hapmaprs281864981
1000 genomesrs281864981
hgdprs281864981
ensemblrs281864981
gopubmedrs281864981
geneviewrs281864981
scholarrs281864981
googlers281864981
pharmgkbrs281864981
gwascentralrs281864981
openSNPrs281864981
23andMers281864981
23andMe allrs281864981
SNP Nexus

SNPshotrs281864981
SNPdbers281864981
MSV3drs281864981
GWAS Ctlgrs281864981
Max Magnitude0
ClinVar
Risk rs281864981(T;T)
Alt rs281864981(T;T)
Reference rs281864981(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102159962G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032301.1,


[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.