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rs72555368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72555368(A;G)
Make rs72555368(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33014292
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555368
ebirs72555368
HLIrs72555368
Exacrs72555368
Varsomers72555368
Maprs72555368
PheGenIrs72555368
hapmaprs72555368
1000 genomesrs72555368
hgdprs72555368
ensemblrs72555368
gopubmedrs72555368
geneviewrs72555368
scholarrs72555368
googlers72555368
pharmgkbrs72555368
gwascentralrs72555368
openSNPrs72555368
23andMers72555368
23andMe allrs72555368
SNP Nexus

SNPshotrs72555368
SNPdbers72555368
MSV3drs72555368
GWAS Ctlgrs72555368
Max Magnitude0
OMIM611458
Desc
Variant0020
Relatedalso


ClinVar
Risk rs72555368(G;G)
Alt rs72555368(G;G)
Reference rs72555368(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33055784T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000991.3,



[PMID 10841810OA-icon.png] Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.