rs57508089
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs57508089(C;T) |
| Make rs57508089(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156136110 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57508089 |
| dbSNP (classic) | rs57508089 |
| ClinGen | rs57508089 |
| ebi | rs57508089 |
| HLI | rs57508089 |
| Exac | rs57508089 |
| Gnomad | rs57508089 |
| Varsome | rs57508089 |
| LitVar | rs57508089 |
| Map | rs57508089 |
| PheGenI | rs57508089 |
| Biobank | rs57508089 |
| 1000 genomes | rs57508089 |
| hgdp | rs57508089 |
| ensembl | rs57508089 |
| geneview | rs57508089 |
| scholar | rs57508089 |
| rs57508089 | |
| pharmgkb | rs57508089 |
| gwascentral | rs57508089 |
| openSNP | rs57508089 |
| 23andMe | rs57508089 |
| SNPshot | rs57508089 |
| SNPdbe | rs57508089 |
| MSV3d | rs57508089 |
| GWAS Ctlg | rs57508089 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57508089(T;T) |
| Alt | rs57508089(T;T) |
| Reference | Rs57508089(C;C) |
| Significance | Pathogenic |
| Disease | Limb-girdle muscular dystrophy not provided Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Limb-girdle muscular dystrophy not provided Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156105901C>T |
| CLNSRC | ClinVar Epithelial Biology |
| CLNACC | RCV000041309.3, RCV000057239.2, RCV000468865.1, |
