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rs281865011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865011(-;-)
Make rs281865011(-;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101760047
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865011
ebirs281865011
HLIrs281865011
Exacrs281865011
Varsomers281865011
Maprs281865011
PheGenIrs281865011
hapmaprs281865011
1000 genomesrs281865011
hgdprs281865011
ensemblrs281865011
gopubmedrs281865011
geneviewrs281865011
scholarrs281865011
googlers281865011
pharmgkbrs281865011
gwascentralrs281865011
openSNPrs281865011
23andMers281865011
23andMe allrs281865011
SNP Nexus

SNPshotrs281865011
SNPdbers281865011
MSV3drs281865011
GWAS Ctlgrs281865011
Max Magnitude0
ClinVar
Risk rs281865011(;)
Alt rs281865011(;)
Reference rs281865011(T;T)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102153825delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000032332.1,


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