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

rs281864952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTT;GTT) 0 common in clinvar
Make rs281864952(-;-)
Make rs281864952(-;GTT)
ReferenceGRCh38 38.1/141
Chromosome12
Position101790027
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864952
ebirs281864952
HLIrs281864952
Exacrs281864952
Varsomers281864952
Maprs281864952
PheGenIrs281864952
hapmaprs281864952
1000 genomesrs281864952
hgdprs281864952
ensemblrs281864952
gopubmedrs281864952
geneviewrs281864952
scholarrs281864952
googlers281864952
pharmgkbrs281864952
gwascentralrs281864952
openSNPrs281864952
23andMers281864952
23andMe allrs281864952
SNP Nexus

SNPshotrs281864952
SNPdbers281864952
MSV3drs281864952
GWAS Ctlgrs281864952
Max Magnitude0
ClinVar
Risk rs281864952(;)
Alt rs281864952(;)
Reference rs281864952(GTT;GTT)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102183805_102183807delAAC
CLNSRC ClinVar GeneReviews
CLNACC RCV000032315.1,


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