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rs281864988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864988(-;-)
Make rs281864988(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764728
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864988
ebirs281864988
HLIrs281864988
Exacrs281864988
Varsomers281864988
Maprs281864988
PheGenIrs281864988
hapmaprs281864988
1000 genomesrs281864988
hgdprs281864988
ensemblrs281864988
gopubmedrs281864988
geneviewrs281864988
scholarrs281864988
googlers281864988
pharmgkbrs281864988
gwascentralrs281864988
openSNPrs281864988
23andMers281864988
23andMe allrs281864988
SNP Nexus

SNPshotrs281864988
SNPdbers281864988
MSV3drs281864988
GWAS Ctlgrs281864988
Max Magnitude0
ClinVar
Risk rs281864988(;)
Alt rs281864988(;)
Reference rs281864988(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158506delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000034155.2,


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