rs72555372
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72555372(C;T) |
| Make rs72555372(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 33046137 |
| Gene | GLB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72555372 |
| dbSNP (classic) | rs72555372 |
| ClinGen | rs72555372 |
| ebi | rs72555372 |
| HLI | rs72555372 |
| Exac | rs72555372 |
| Gnomad | rs72555372 |
| Varsome | rs72555372 |
| LitVar | rs72555372 |
| Map | rs72555372 |
| PheGenI | rs72555372 |
| Biobank | rs72555372 |
| 1000 genomes | rs72555372 |
| hgdp | rs72555372 |
| ensembl | rs72555372 |
| geneview | rs72555372 |
| scholar | rs72555372 |
| rs72555372 | |
| pharmgkb | rs72555372 |
| gwascentral | rs72555372 |
| openSNP | rs72555372 |
| 23andMe | rs72555372 |
| SNPshot | rs72555372 |
| SNPdbe | rs72555372 |
| MSV3d | rs72555372 |
| GWAS Ctlg | rs72555372 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72555372(T;T) |
| Alt | rs72555372(T;T) |
| Reference | Rs72555372(C;C) |
| 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.33087629G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000990.2, |
[PMID 10841810
] Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
