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rs281864962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864962(A;A)
Make rs281864962(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780287
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864962
ebirs281864962
HLIrs281864962
Exacrs281864962
Varsomers281864962
Maprs281864962
PheGenIrs281864962
hapmaprs281864962
1000 genomesrs281864962
hgdprs281864962
ensemblrs281864962
gopubmedrs281864962
geneviewrs281864962
scholarrs281864962
googlers281864962
pharmgkbrs281864962
gwascentralrs281864962
openSNPrs281864962
23andMers281864962
23andMe allrs281864962
SNP Nexus

SNPshotrs281864962
SNPdbers281864962
MSV3drs281864962
GWAS Ctlgrs281864962
Max Magnitude0
ClinVar
Risk rs281864962(A;A)
Alt rs281864962(A;A)
Reference rs281864962(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102174065C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032352.1,


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