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rs72555390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72555390(C;C)
Make rs72555390(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072637
GeneGLB1
is asnp
is mentioned by
dbSNPrs72555390
ebirs72555390
HLIrs72555390
Exacrs72555390
Varsomers72555390
Maprs72555390
PheGenIrs72555390
hapmaprs72555390
1000 genomesrs72555390
hgdprs72555390
ensemblrs72555390
gopubmedrs72555390
geneviewrs72555390
scholarrs72555390
googlers72555390
pharmgkbrs72555390
gwascentralrs72555390
openSNPrs72555390
23andMers72555390
23andMe allrs72555390
SNP Nexus

SNPshotrs72555390
SNPdbers72555390
MSV3drs72555390
GWAS Ctlgrs72555390
Merged fromRs28934885
Max Magnitude0
OMIM611458
Desc
Variant0004
Relatedalso
ClinVar
Risk rs72555390(C;C)
Alt rs72555390(C;C)
Reference rs72555390(T;T)
Significance Pathogenic
Disease Gangliosidosis GM1 type 3
Variation info
Gene TMPPE GLB1
CLNDBN Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33114129A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000974.2,


[PMID 1353343] GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.


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