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rs72555360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72555360(C;T)
Make rs72555360(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33058221
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555360
ebirs72555360
HLIrs72555360
Exacrs72555360
Varsomers72555360
Maprs72555360
PheGenIrs72555360
hapmaprs72555360
1000 genomesrs72555360
hgdprs72555360
ensemblrs72555360
gopubmedrs72555360
geneviewrs72555360
scholarrs72555360
googlers72555360
pharmgkbrs72555360
gwascentralrs72555360
openSNPrs72555360
23andMers72555360
23andMe allrs72555360
SNP Nexus

SNPshotrs72555360
SNPdbers72555360
MSV3drs72555360
GWAS Ctlgrs72555360
Max Magnitude0
OMIM611458
Desc
Variant0003
Relatedalso


ClinVar
Risk rs72555360(T;T)
Alt rs72555360(T;T)
Reference rs72555360(C;C)
Significance Pathogenic
Disease GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN GM1 gangliosidosis type 2
Reversed 1
HGVS NC_000003.11:g.33099713G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000973.3,



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