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rs281865009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865009(C;T)
Make rs281865009(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761171
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865009
ebirs281865009
HLIrs281865009
Exacrs281865009
Varsomers281865009
Maprs281865009
PheGenIrs281865009
hapmaprs281865009
1000 genomesrs281865009
hgdprs281865009
ensemblrs281865009
gopubmedrs281865009
geneviewrs281865009
scholarrs281865009
googlers281865009
pharmgkbrs281865009
gwascentralrs281865009
openSNPrs281865009
23andMers281865009
23andMe allrs281865009
SNP Nexus

SNPshotrs281865009
SNPdbers281865009
MSV3drs281865009
GWAS Ctlgrs281865009
Max Magnitude0
ClinVar
Risk rs281865009(T;T)
Alt rs281865009(T;T)
Reference rs281865009(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102154949G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032330.1,


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