rs863224968
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs863224968(A;A) |
| Make rs863224968(A;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 12011547 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224968 |
| dbSNP (classic) | rs863224968 |
| ClinGen | rs863224968 |
| ebi | rs863224968 |
| HLI | rs863224968 |
| Exac | rs863224968 |
| Gnomad | rs863224968 |
| Varsome | rs863224968 |
| LitVar | rs863224968 |
| Map | rs863224968 |
| PheGenI | rs863224968 |
| Biobank | rs863224968 |
| 1000 genomes | rs863224968 |
| hgdp | rs863224968 |
| ensembl | rs863224968 |
| geneview | rs863224968 |
| scholar | rs863224968 |
| rs863224968 | |
| pharmgkb | rs863224968 |
| gwascentral | rs863224968 |
| openSNP | rs863224968 |
| 23andMe | rs863224968 |
| SNPshot | rs863224968 |
| SNPdbe | rs863224968 |
| MSV3d | rs863224968 |
| GWAS Ctlg | rs863224968 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863224968(A;A) rs863224968(G;G) |
| Alt | rs863224968(A;A) rs863224968(G;G) |
| Reference | Rs863224968(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MFN2 |
| CLNDBN | Charcot-Marie-Tooth disease, type 2A2 Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12071604C>A; NC_000001.10:g.12071604C>G |
| CLNSRC | Quest Diagnostics |
| CLNACC | RCV000201055.1, RCV000231193.1, |
