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rs72555367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72555367(A;A)
Make rs72555367(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33018482
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555367
ebirs72555367
HLIrs72555367
Exacrs72555367
Varsomers72555367
Maprs72555367
PheGenIrs72555367
hapmaprs72555367
1000 genomesrs72555367
hgdprs72555367
ensemblrs72555367
gopubmedrs72555367
geneviewrs72555367
scholarrs72555367
googlers72555367
pharmgkbrs72555367
gwascentralrs72555367
openSNPrs72555367
23andMers72555367
23andMe allrs72555367
SNP Nexus

SNPshotrs72555367
SNPdbers72555367
MSV3drs72555367
GWAS Ctlgrs72555367
Max Magnitude0
OMIM611458
Desc
Variant0018
Relatedalso


ClinVar
Risk rs72555367(A;A)
Alt rs72555367(A;A)
Reference rs72555367(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B
Reversed 1
HGVS NC_000003.11:g.33059974C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000989.3,



[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.