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rs281864967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281864967(-;-)
Make rs281864967(-;A)
Make rs281864967(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position101771014
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864967
ebirs281864967
HLIrs281864967
Exacrs281864967
Varsomers281864967
Maprs281864967
PheGenIrs281864967
hapmaprs281864967
1000 genomesrs281864967
hgdprs281864967
ensemblrs281864967
gopubmedrs281864967
geneviewrs281864967
scholarrs281864967
googlers281864967
pharmgkbrs281864967
gwascentralrs281864967
openSNPrs281864967
23andMers281864967
23andMe allrs281864967
SNP Nexus

SNPshotrs281864967
SNPdbers281864967
MSV3drs281864967
GWAS Ctlgrs281864967
Max Magnitude0
ClinVar
Risk rs281864967(A;A)
Alt rs281864967(A;A)
Reference rs281864967(;)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102164793dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032358.1,


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