Have questions? Visit https://www.reddit.com/r/SNPedia

rs281864947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864947(A;A)
Make rs281864947(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position101830632
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864947
ebirs281864947
HLIrs281864947
Exacrs281864947
Varsomers281864947
Maprs281864947
PheGenIrs281864947
hapmaprs281864947
1000 genomesrs281864947
hgdprs281864947
ensemblrs281864947
gopubmedrs281864947
geneviewrs281864947
scholarrs281864947
googlers281864947
pharmgkbrs281864947
gwascentralrs281864947
openSNPrs281864947
23andMers281864947
23andMe allrs281864947
SNP Nexus

SNPshotrs281864947
SNPdbers281864947
MSV3drs281864947
GWAS Ctlgrs281864947
Max Magnitude0
ClinVar
Risk rs281864947(A;A)
Alt rs281864947(A;A)
Reference rs281864947(C;C)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102224410G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032348.1,


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