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rs281865008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865008(C;T)
Make rs281865008(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101761201
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865008
ebirs281865008
HLIrs281865008
Exacrs281865008
Varsomers281865008
Maprs281865008
PheGenIrs281865008
hapmaprs281865008
1000 genomesrs281865008
hgdprs281865008
ensemblrs281865008
gopubmedrs281865008
geneviewrs281865008
scholarrs281865008
googlers281865008
pharmgkbrs281865008
gwascentralrs281865008
openSNPrs281865008
23andMers281865008
23andMe allrs281865008
SNP Nexus

SNPshotrs281865008
SNPdbers281865008
MSV3drs281865008
GWAS Ctlgrs281865008
Max Magnitude0
ClinVar
Risk rs281865008(T;T)
Alt rs281865008(T;T)
Reference rs281865008(C;C)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102154979G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032329.1,


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