rs773159585
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs773159585(C;T) |
| Make rs773159585(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 11998877 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773159585 |
| dbSNP (classic) | rs773159585 |
| ClinGen | rs773159585 |
| ebi | rs773159585 |
| HLI | rs773159585 |
| Exac | rs773159585 |
| Gnomad | rs773159585 |
| Varsome | rs773159585 |
| LitVar | rs773159585 |
| Map | rs773159585 |
| PheGenI | rs773159585 |
| Biobank | rs773159585 |
| 1000 genomes | rs773159585 |
| hgdp | rs773159585 |
| ensembl | rs773159585 |
| geneview | rs773159585 |
| scholar | rs773159585 |
| rs773159585 | |
| pharmgkb | rs773159585 |
| gwascentral | rs773159585 |
| openSNP | rs773159585 |
| 23andMe | rs773159585 |
| SNPshot | rs773159585 |
| SNPdbe | rs773159585 |
| MSV3d | rs773159585 |
| GWAS Ctlg | rs773159585 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs773159585(T;T) |
| Alt | rs773159585(T;T) |
| Reference | Rs773159585(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MFN2 |
| CLNDBN | Charcot-Marie-Tooth disease, type 2A2 Distal lower limb amyotrophy Distal muscle weakness Peripheral axonal neuropathy Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12058934C>T |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000201150.1, RCV000414991.1, RCV000470638.1, |
