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rs281864959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864959(A;C)
Make rs281864959(C;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101780579
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864959
ebirs281864959
HLIrs281864959
Exacrs281864959
Varsomers281864959
Maprs281864959
PheGenIrs281864959
hapmaprs281864959
1000 genomesrs281864959
hgdprs281864959
ensemblrs281864959
gopubmedrs281864959
geneviewrs281864959
scholarrs281864959
googlers281864959
pharmgkbrs281864959
gwascentralrs281864959
openSNPrs281864959
23andMers281864959
23andMe allrs281864959
SNP Nexus

SNPshotrs281864959
SNPdbers281864959
MSV3drs281864959
GWAS Ctlgrs281864959
Max Magnitude0
ClinVar
Risk rs281864959(C;C)
Alt rs281864959(C;C)
Reference rs281864959(A;A)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102174357T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000032362.1,


[PMID 19938078] Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.