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rs281864992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs281864992(-;-)
Make rs281864992(-;AA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764641
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864992
ebirs281864992
HLIrs281864992
Exacrs281864992
Varsomers281864992
Maprs281864992
PheGenIrs281864992
hapmaprs281864992
1000 genomesrs281864992
hgdprs281864992
ensemblrs281864992
gopubmedrs281864992
geneviewrs281864992
scholarrs281864992
googlers281864992
pharmgkbrs281864992
gwascentralrs281864992
openSNPrs281864992
23andMers281864992
23andMe allrs281864992
SNP Nexus

SNPshotrs281864992
SNPdbers281864992
MSV3drs281864992
GWAS Ctlgrs281864992
Max Magnitude0
ClinVar
Risk rs281864992(;)
Alt rs281864992(;)
Reference rs281864992(AA;AA)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158419_102158420delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032314.1,


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