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rs281865013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865013(-;-)
Make rs281865013(-;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101757597
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865013
ebirs281865013
HLIrs281865013
Exacrs281865013
Varsomers281865013
Maprs281865013
PheGenIrs281865013
hapmaprs281865013
1000 genomesrs281865013
hgdprs281865013
ensemblrs281865013
gopubmedrs281865013
geneviewrs281865013
scholarrs281865013
googlers281865013
pharmgkbrs281865013
gwascentralrs281865013
openSNPrs281865013
23andMers281865013
23andMe allrs281865013
SNP Nexus

SNPshotrs281865013
SNPdbers281865013
MSV3drs281865013
GWAS Ctlgrs281865013
Max Magnitude0
ClinVar
Risk rs281865013(;)
Alt rs281865013(;)
Reference rs281865013(G;G)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102151375delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032334.1,


[PMID 19197337] Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.