rs772701127
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Carrier of a Charcot-Marie-Tooth disease mutation |
| (T;T) | 5 | Charcot-Marie-Tooth disease, type 2A (predicted) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 12007074 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772701127 |
| dbSNP (classic) | rs772701127 |
| ClinGen | rs772701127 |
| ebi | rs772701127 |
| HLI | rs772701127 |
| Exac | rs772701127 |
| Gnomad | rs772701127 |
| Varsome | rs772701127 |
| LitVar | rs772701127 |
| Map | rs772701127 |
| PheGenI | rs772701127 |
| Biobank | rs772701127 |
| 1000 genomes | rs772701127 |
| hgdp | rs772701127 |
| ensembl | rs772701127 |
| geneview | rs772701127 |
| scholar | rs772701127 |
| rs772701127 | |
| pharmgkb | rs772701127 |
| gwascentral | rs772701127 |
| openSNP | rs772701127 |
| 23andMe | rs772701127 |
| SNPshot | rs772701127 |
| SNPdbe | rs772701127 |
| MSV3d | rs772701127 |
| GWAS Ctlg | rs772701127 |
| Max Magnitude | 5 |
rs772701127, also known as c.1894C>T, p.Arg632Trp and R632W, represents a variant in the MFN2 gene on chromosome 1.
When inherited recessively, the rs772701127(T) variant is reported to lead to a relatively mild and late-onset form of Charcot-Marie-Tooth disease, type 2A.10.1038/s10038-017-0353-3
