rs80356759
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356759(A;A) |
| Make rs80356759(A;G) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 1 |
| Position | 155241085 |
| Gene | GBA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356759 |
| dbSNP (classic) | rs80356759 |
| ClinGen | rs80356759 |
| ebi | rs80356759 |
| HLI | rs80356759 |
| Exac | rs80356759 |
| Gnomad | rs80356759 |
| Varsome | rs80356759 |
| LitVar | rs80356759 |
| Map | rs80356759 |
| PheGenI | rs80356759 |
| Biobank | rs80356759 |
| 1000 genomes | rs80356759 |
| hgdp | rs80356759 |
| ensembl | rs80356759 |
| geneview | rs80356759 |
| scholar | rs80356759 |
| rs80356759 | |
| pharmgkb | rs80356759 |
| gwascentral | rs80356759 |
| openSNP | rs80356759 |
| 23andMe | rs80356759 |
| SNPshot | rs80356759 |
| SNPdbe | rs80356759 |
| MSV3d | rs80356759 |
| GWAS Ctlg | rs80356759 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356759(A;A) |
| Alt | rs80356759(A;A) |
| Reference | Rs80356759(G;G) |
| Significance | Pathogenic |
| Disease | Gaucher's disease Acute neuronopathic Gaucher's disease Gaucher disease |
| Variation | info |
| Gene | GBA |
| CLNDBN | Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Gaucher disease |
| Reversed | 1 |
| HGVS | NC_000001.10:g.155210876C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004545.5, RCV000004546.5, RCV000032094.1, |
[PMID 2349952
] Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
[PMID 2508065] Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
