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rs281864970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864970(A;A)
Make rs281864970(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770518
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864970
ebirs281864970
HLIrs281864970
Exacrs281864970
Varsomers281864970
Maprs281864970
PheGenIrs281864970
hapmaprs281864970
1000 genomesrs281864970
hgdprs281864970
ensemblrs281864970
gopubmedrs281864970
geneviewrs281864970
scholarrs281864970
googlers281864970
pharmgkbrs281864970
gwascentralrs281864970
openSNPrs281864970
23andMers281864970
23andMe allrs281864970
SNP Nexus

SNPshotrs281864970
SNPdbers281864970
MSV3drs281864970
GWAS Ctlgrs281864970
Max Magnitude0
ClinVar
Risk rs281864970(A,T;A,T)
Alt rs281864970(A,T;A,T)
Reference rs281864970(G;G)
Significance Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN I cell disease Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102164296C>A; NC_000012.11:g.102164296C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032284.1, RCV000032283.1,


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


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