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rs72555363

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72555363(G;T)
Make rs72555363(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33014263
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555363
ebirs72555363
HLIrs72555363
Exacrs72555363
Varsomers72555363
Maprs72555363
PheGenIrs72555363
hapmaprs72555363
1000 genomesrs72555363
hgdprs72555363
ensemblrs72555363
gopubmedrs72555363
geneviewrs72555363
scholarrs72555363
googlers72555363
pharmgkbrs72555363
gwascentralrs72555363
openSNPrs72555363
23andMers72555363
23andMe allrs72555363
SNP Nexus

SNPshotrs72555363
SNPdbers72555363
MSV3drs72555363
GWAS Ctlgrs72555363
Max Magnitude0
OMIM611458
Desc
Variant0011
Relatedalso
ClinVar
Risk rs72555363(T;T)
Alt rs72555363(T;T)
Reference rs72555363(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33055755C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000982.5,


[PMID 1928092OA-icon.png] Human beta-galactosidase gene mutations in morquio B disease.