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rs72555358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555358(C;T)
Make rs72555358(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072644
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555358
ebirs72555358
HLIrs72555358
Exacrs72555358
Varsomers72555358
Maprs72555358
PheGenIrs72555358
hapmaprs72555358
1000 genomesrs72555358
hgdprs72555358
ensemblrs72555358
gopubmedrs72555358
geneviewrs72555358
scholarrs72555358
googlers72555358
pharmgkbrs72555358
gwascentralrs72555358
openSNPrs72555358
23andMers72555358
23andMe allrs72555358
SNP Nexus

SNPshotrs72555358
SNPdbers72555358
MSV3drs72555358
GWAS Ctlgrs72555358
Max Magnitude0
OMIM611458
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72555358(T;T)
Alt rs72555358(T;T)
Reference rs72555358(C;C)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis not provided
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis not provided
Reversed 1
HGVS NC_000003.11:g.33114136G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000971.1, RCV000175599.1,



[PMID 1909089OA-icon.png] GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.