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rs281864982

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864982(C;T)
Make rs281864982(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101765158
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864982
ebirs281864982
HLIrs281864982
Exacrs281864982
Varsomers281864982
Maprs281864982
PheGenIrs281864982
hapmaprs281864982
1000 genomesrs281864982
hgdprs281864982
ensemblrs281864982
gopubmedrs281864982
geneviewrs281864982
scholarrs281864982
googlers281864982
pharmgkbrs281864982
gwascentralrs281864982
openSNPrs281864982
23andMers281864982
23andMe allrs281864982
SNP Nexus

SNPshotrs281864982
SNPdbers281864982
MSV3drs281864982
GWAS Ctlgrs281864982
Max Magnitude0
ClinVar
Risk rs281864982(T;T)
Alt rs281864982(T;T)
Reference rs281864982(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158936G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032305.1,


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