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

rs281865022

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs281865022(-;-)
Make rs281865022(-;AGAA)
ReferenceGRCh38 38.1/141
Chromosome12
Position101747191
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865022
ebirs281865022
HLIrs281865022
Exacrs281865022
Varsomers281865022
Maprs281865022
PheGenIrs281865022
hapmaprs281865022
1000 genomesrs281865022
hgdprs281865022
ensemblrs281865022
gopubmedrs281865022
geneviewrs281865022
scholarrs281865022
googlers281865022
pharmgkbrs281865022
gwascentralrs281865022
openSNPrs281865022
23andMers281865022
23andMe allrs281865022
SNP Nexus

SNPshotrs281865022
SNPdbers281865022
MSV3drs281865022
GWAS Ctlgrs281865022
Max Magnitude0
ClinVar
Risk rs281865022(;)
Alt rs281865022(;)
Reference rs281865022(AGAA;AGAA)
Significance Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB LOC101929005
CLNDBN I cell disease Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102140969_102140972delTTCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032345.1, RCV000087105.1,


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