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rs72555373

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72555373(A;A)
Make rs72555373(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position32997308
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555373
ebirs72555373
HLIrs72555373
Exacrs72555373
Varsomers72555373
Maprs72555373
PheGenIrs72555373
hapmaprs72555373
1000 genomesrs72555373
hgdprs72555373
ensemblrs72555373
gopubmedrs72555373
geneviewrs72555373
scholarrs72555373
googlers72555373
pharmgkbrs72555373
gwascentralrs72555373
openSNPrs72555373
23andMers72555373
23andMe allrs72555373
SNP Nexus

SNPshotrs72555373
SNPdbers72555373
MSV3drs72555373
GWAS Ctlgrs72555373
GMAF0.0004591
Max Magnitude0
OMIM611458
Desc
Variant0025
Relatedalso


ClinVar
Risk rs72555373(A,C;A,C)
Alt rs72555373(A,C;A,C)
Reference rs72555373(T;T)
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.33038800A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000997.2,



[PMID 10737981] beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.