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rs281864950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281864950(A;A)
Make rs281864950(A;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101796712
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864950
ebirs281864950
HLIrs281864950
Exacrs281864950
Varsomers281864950
Maprs281864950
PheGenIrs281864950
hapmaprs281864950
1000 genomesrs281864950
hgdprs281864950
ensemblrs281864950
gopubmedrs281864950
geneviewrs281864950
scholarrs281864950
googlers281864950
pharmgkbrs281864950
gwascentralrs281864950
openSNPrs281864950
23andMers281864950
23andMe allrs281864950
SNP Nexus

SNPshotrs281864950
SNPdbers281864950
MSV3drs281864950
GWAS Ctlgrs281864950
Max Magnitude0
ClinVar
Risk rs281864950(A;A)
Alt rs281864950(A;A)
Reference rs281864950(T;T)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102190490A>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032303.1,


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