rs140234726
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs140234726(A;A) |
| Make rs140234726(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 11999028 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140234726 |
| dbSNP (classic) | rs140234726 |
| ClinGen | rs140234726 |
| ebi | rs140234726 |
| HLI | rs140234726 |
| Exac | rs140234726 |
| Gnomad | rs140234726 |
| Varsome | rs140234726 |
| LitVar | rs140234726 |
| Map | rs140234726 |
| PheGenI | rs140234726 |
| Biobank | rs140234726 |
| 1000 genomes | rs140234726 |
| hgdp | rs140234726 |
| ensembl | rs140234726 |
| geneview | rs140234726 |
| scholar | rs140234726 |
| rs140234726 | |
| pharmgkb | rs140234726 |
| gwascentral | rs140234726 |
| openSNP | rs140234726 |
| 23andMe | rs140234726 |
| SNPshot | rs140234726 |
| SNPdbe | rs140234726 |
| MSV3d | rs140234726 |
| GWAS Ctlg | rs140234726 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140234726(A;A) |
| Alt | rs140234726(A;A) |
| Reference | Rs140234726(G;G) |
| Significance | Pathogenic |
| Disease | not specified Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MFN2 |
| CLNDBN | not specified Charcot-Marie-Tooth disease, type 2 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12059085G>A |
| CLNSRC | |
| CLNACC | RCV000200438.3, RCV000464315.1, |
