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rs72555362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72555362(G;T)
Make rs72555362(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33051979
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555362
dbSNP (old)rs72555362
ClinGenrs72555362
ebirs72555362
HLIrs72555362
Exacrs72555362
Gnomadrs72555362
Varsomers72555362
Maprs72555362
PheGenIrs72555362
Biobankrs72555362
1000 genomesrs72555362
hgdprs72555362
ensemblrs72555362
gopubmedrs72555362
geneviewrs72555362
scholarrs72555362
googlers72555362
pharmgkbrs72555362
gwascentralrs72555362
openSNPrs72555362
23andMers72555362
23andMe allrs72555362
SNP Nexus

SNPshotrs72555362
SNPdbers72555362
MSV3drs72555362
GWAS Ctlgrs72555362
Max Magnitude0
OMIM611458
Desc
Variant0009
Relatedalso


ClinVar
Risk rs72555362(T;T)
Alt rs72555362(T;T)
Reference Rs72555362(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33093471C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000979.3,



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