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rs281864987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864987(-;-)
Make rs281864987(-;C)
Make rs281864987(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764827
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864987
ebirs281864987
HLIrs281864987
Exacrs281864987
Varsomers281864987
Maprs281864987
PheGenIrs281864987
hapmaprs281864987
1000 genomesrs281864987
hgdprs281864987
ensemblrs281864987
gopubmedrs281864987
geneviewrs281864987
scholarrs281864987
googlers281864987
pharmgkbrs281864987
gwascentralrs281864987
openSNPrs281864987
23andMers281864987
23andMe allrs281864987
SNP Nexus

SNPshotrs281864987
SNPdbers281864987
MSV3drs281864987
GWAS Ctlgrs281864987
Max Magnitude0
ClinVar
Risk rs281864987(C;C)
Alt rs281864987(C;C)
Reference rs281864987(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158606dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032310.1,


[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.