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rs72555359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555359(C;T)
Make rs72555359(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33016819
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555359
ebirs72555359
HLIrs72555359
Exacrs72555359
Varsomers72555359
Maprs72555359
PheGenIrs72555359
hapmaprs72555359
1000 genomesrs72555359
hgdprs72555359
ensemblrs72555359
gopubmedrs72555359
geneviewrs72555359
scholarrs72555359
googlers72555359
pharmgkbrs72555359
gwascentralrs72555359
openSNPrs72555359
23andMers72555359
23andMe allrs72555359
SNP Nexus

SNPshotrs72555359
SNPdbers72555359
MSV3drs72555359
GWAS Ctlgrs72555359
Max Magnitude0
OMIM611458
Desc
Variant0002
Relatedalso


ClinVar
Risk rs72555359(T;T)
Alt rs72555359(T;T)
Reference rs72555359(C;C)
Significance Pathogenic
Disease Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33058311G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000972.2,



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