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rs72555372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555372(C;T)
Make rs72555372(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33046137
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555372
ebirs72555372
HLIrs72555372
Exacrs72555372
Varsomers72555372
Maprs72555372
PheGenIrs72555372
hapmaprs72555372
1000 genomesrs72555372
hgdprs72555372
ensemblrs72555372
gopubmedrs72555372
geneviewrs72555372
scholarrs72555372
googlers72555372
pharmgkbrs72555372
gwascentralrs72555372
openSNPrs72555372
23andMers72555372
23andMe allrs72555372
SNP Nexus

SNPshotrs72555372
SNPdbers72555372
MSV3drs72555372
GWAS Ctlgrs72555372
Max Magnitude0
OMIM611458
Desc
Variant0019
Relatedalso


ClinVar
Risk rs72555372(T;T)
Alt rs72555372(T;T)
Reference rs72555372(C;C)
Significance Pathogenic
Disease Gm1-gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Gm1-gangliosidosis, type I, with cardiac involvement
Reversed 1
HGVS NC_000003.11:g.33087629G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000990.2,



[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.