Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864966

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864966(-;-)
Make rs281864966(-;A)
Make rs281864966(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101771071
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864966
ebirs281864966
HLIrs281864966
Exacrs281864966
Varsomers281864966
Maprs281864966
PheGenIrs281864966
hapmaprs281864966
1000 genomesrs281864966
hgdprs281864966
ensemblrs281864966
gopubmedrs281864966
geneviewrs281864966
scholarrs281864966
googlers281864966
pharmgkbrs281864966
gwascentralrs281864966
openSNPrs281864966
23andMers281864966
23andMe allrs281864966
SNP Nexus

SNPshotrs281864966
SNPdbers281864966
MSV3drs281864966
GWAS Ctlgrs281864966
Max Magnitude0
ClinVar
Risk rs281864966(A;A)
Alt rs281864966(A;A)
Reference rs281864966(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102164850dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032357.1,


[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.