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rs281864963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs281864963(-;-)
Make rs281864963(-;AGAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780272
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864963
ebirs281864963
HLIrs281864963
Exacrs281864963
Varsomers281864963
Maprs281864963
PheGenIrs281864963
hapmaprs281864963
1000 genomesrs281864963
hgdprs281864963
ensemblrs281864963
gopubmedrs281864963
geneviewrs281864963
scholarrs281864963
googlers281864963
pharmgkbrs281864963
gwascentralrs281864963
openSNPrs281864963
23andMers281864963
23andMe allrs281864963
SNP Nexus

SNPshotrs281864963
SNPdbers281864963
MSV3drs281864963
GWAS Ctlgrs281864963
Max Magnitude0
ClinVar
Risk rs281864963(;)
Alt rs281864963(;)
Reference rs281864963(AGAA;AGAA)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102174050_102174053delTTCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032353.1,


[PMID 19617216OA-icon.png] Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.