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rs281864989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864989(G;T)
Make rs281864989(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101764721
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864989
ClinGenrs281864989
ebirs281864989
HLIrs281864989
Exacrs281864989
Varsomers281864989
Maprs281864989
PheGenIrs281864989
hapmaprs281864989
1000 genomesrs281864989
hgdprs281864989
ensemblrs281864989
gopubmedrs281864989
geneviewrs281864989
scholarrs281864989
googlers281864989
pharmgkbrs281864989
gwascentralrs281864989
openSNPrs281864989
23andMers281864989
23andMe allrs281864989
SNP Nexus

SNPshotrs281864989
SNPdbers281864989
MSV3drs281864989
GWAS Ctlgrs281864989
Max Magnitude0
ClinVar
Risk rs281864989(A;A) rs281864989(T;T)
Alt rs281864989(A;A) rs281864989(T;T)
Reference Rs281864989(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102158499C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000032311.1,


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