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rs281864998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864998(C;G)
Make rs281864998(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764253
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864998
ebirs281864998
HLIrs281864998
Exacrs281864998
Varsomers281864998
Maprs281864998
PheGenIrs281864998
hapmaprs281864998
1000 genomesrs281864998
hgdprs281864998
ensemblrs281864998
gopubmedrs281864998
geneviewrs281864998
scholarrs281864998
googlers281864998
pharmgkbrs281864998
gwascentralrs281864998
openSNPrs281864998
23andMers281864998
23andMe allrs281864998
SNP Nexus

SNPshotrs281864998
SNPdbers281864998
MSV3drs281864998
GWAS Ctlgrs281864998
Max Magnitude0
ClinVar
Risk rs281864998(G;G)
Alt rs281864998(G;G)
Reference rs281864998(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158031G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000032321.1,


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