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rs281865014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865014(-;-)
Make rs281865014(-;A)
Make rs281865014(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757579
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865014
ebirs281865014
HLIrs281865014
Exacrs281865014
Varsomers281865014
Maprs281865014
PheGenIrs281865014
hapmaprs281865014
1000 genomesrs281865014
hgdprs281865014
ensemblrs281865014
gopubmedrs281865014
geneviewrs281865014
scholarrs281865014
googlers281865014
pharmgkbrs281865014
gwascentralrs281865014
openSNPrs281865014
23andMers281865014
23andMe allrs281865014
SNP Nexus

SNPshotrs281865014
SNPdbers281865014
MSV3drs281865014
GWAS Ctlgrs281865014
Max Magnitude0
ClinVar
Risk rs281865014(A;A)
Alt rs281865014(A;A)
Reference rs281865014(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151357dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032335.1,


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