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rs281864979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864979(A;A)
Make rs281864979(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101768043
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864979
ebirs281864979
HLIrs281864979
Exacrs281864979
Varsomers281864979
Maprs281864979
PheGenIrs281864979
hapmaprs281864979
1000 genomesrs281864979
hgdprs281864979
ensemblrs281864979
gopubmedrs281864979
geneviewrs281864979
scholarrs281864979
googlers281864979
pharmgkbrs281864979
gwascentralrs281864979
openSNPrs281864979
23andMers281864979
23andMe allrs281864979
SNP Nexus

SNPshotrs281864979
SNPdbers281864979
MSV3drs281864979
GWAS Ctlgrs281864979
Max Magnitude0
ClinVar
Risk rs281864979(A;A)
Alt rs281864979(A;A)
Reference rs281864979(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102161821A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000034154.2,


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