Have questions? Visit https://www.reddit.com/r/SNPedia

rs72555371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72555371(A;G)
Make rs72555371(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position32997307
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555371
ebirs72555371
HLIrs72555371
Exacrs72555371
Varsomers72555371
Maprs72555371
PheGenIrs72555371
hapmaprs72555371
1000 genomesrs72555371
hgdprs72555371
ensemblrs72555371
gopubmedrs72555371
geneviewrs72555371
scholarrs72555371
googlers72555371
pharmgkbrs72555371
gwascentralrs72555371
openSNPrs72555371
23andMers72555371
23andMe allrs72555371
SNP Nexus

SNPshotrs72555371
SNPdbers72555371
MSV3drs72555371
GWAS Ctlgrs72555371
Max Magnitude0
OMIM611458
Desc
Variant0026
Relatedalso


ClinVar
Risk rs72555371(G;G)
Alt rs72555371(G;G)
Reference rs72555371(A;A)
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.33038799T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000998.2,



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