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rs281864953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281864953(G;T)
Make rs281864953(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position101790019
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs281864953
ebirs281864953
HLIrs281864953
Exacrs281864953
Varsomers281864953
Maprs281864953
PheGenIrs281864953
hapmaprs281864953
1000 genomesrs281864953
hgdprs281864953
ensemblrs281864953
gopubmedrs281864953
geneviewrs281864953
scholarrs281864953
googlers281864953
pharmgkbrs281864953
gwascentralrs281864953
openSNPrs281864953
23andMers281864953
23andMe allrs281864953
SNP Nexus

SNPshotrs281864953
SNPdbers281864953
MSV3drs281864953
GWAS Ctlgrs281864953
Max Magnitude0
ClinVar
Risk rs281864953(T;T)
Alt rs281864953(T;T)
Reference rs281864953(G;G)
Significance Pathogenic
Disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB
CLNDBN Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102183797C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000032318.1,


[PMID 19659762] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.