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

rs281864968

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864968(C;T)
Make rs281864968(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770579
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864968
ebirs281864968
HLIrs281864968
Exacrs281864968
Varsomers281864968
Maprs281864968
PheGenIrs281864968
hapmaprs281864968
1000 genomesrs281864968
hgdprs281864968
ensemblrs281864968
gopubmedrs281864968
geneviewrs281864968
scholarrs281864968
googlers281864968
pharmgkbrs281864968
gwascentralrs281864968
openSNPrs281864968
23andMers281864968
23andMe allrs281864968
SNP Nexus

SNPshotrs281864968
SNPdbers281864968
MSV3drs281864968
GWAS Ctlgrs281864968
Max Magnitude0
ClinVar
Risk rs281864968(T;T)
Alt rs281864968(T;T)
Reference rs281864968(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102164357G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032359.1,


[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.