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rs281865026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865026(C;T)
Make rs281865026(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101770109
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281865026
ebirs281865026
HLIrs281865026
Exacrs281865026
Varsomers281865026
Maprs281865026
PheGenIrs281865026
hapmaprs281865026
1000 genomesrs281865026
hgdprs281865026
ensemblrs281865026
gopubmedrs281865026
geneviewrs281865026
scholarrs281865026
googlers281865026
pharmgkbrs281865026
gwascentralrs281865026
openSNPrs281865026
23andMers281865026
23andMe allrs281865026
SNP Nexus

SNPshotrs281865026
SNPdbers281865026
MSV3drs281865026
GWAS Ctlgrs281865026
Max Magnitude0
ClinVar
Risk rs281865026(T;T)
Alt rs281865026(T;T)
Reference rs281865026(C;C)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102163887G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000031967.2,


[PMID 16630736] When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.