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rs281864958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864958(A;A)
Make rs281864958(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101786038
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864958
ebirs281864958
HLIrs281864958
Exacrs281864958
Varsomers281864958
Maprs281864958
PheGenIrs281864958
hapmaprs281864958
1000 genomesrs281864958
hgdprs281864958
ensemblrs281864958
gopubmedrs281864958
geneviewrs281864958
scholarrs281864958
googlers281864958
pharmgkbrs281864958
gwascentralrs281864958
openSNPrs281864958
23andMers281864958
23andMe allrs281864958
SNP Nexus

SNPshotrs281864958
SNPdbers281864958
MSV3drs281864958
GWAS Ctlgrs281864958
Max Magnitude0
ClinVar
Risk rs281864958(A;A)
Alt rs281864958(A;A)
Reference rs281864958(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102179816A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032362.1,


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