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rs72555366

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555366(C;T)
Make rs72555366(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33058200
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555366
ebirs72555366
HLIrs72555366
Exacrs72555366
Varsomers72555366
Maprs72555366
PheGenIrs72555366
hapmaprs72555366
1000 genomesrs72555366
hgdprs72555366
ensemblrs72555366
gopubmedrs72555366
geneviewrs72555366
scholarrs72555366
googlers72555366
pharmgkbrs72555366
gwascentralrs72555366
openSNPrs72555366
23andMers72555366
23andMe allrs72555366
SNP Nexus

SNPshotrs72555366
SNPdbers72555366
MSV3drs72555366
GWAS Ctlgrs72555366
GMAF0.0004591
Max Magnitude0
OMIM611458
Desc
Variant0017
Relatedalso


ClinVar
Risk rs72555366(T;T)
Alt rs72555366(T;T)
Reference rs72555366(C;C)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Reversed 1
HGVS NC_000003.11:g.33099692G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000000988.2, RCV000078719.3, RCV000179306.1, RCV000179307.1, RCV000179308.1,



[PMID 8213816OA-icon.png] Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.