rs138382758
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs138382758(A;A) |
| Make rs138382758(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 12004835 |
| Gene | MFN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138382758 |
| dbSNP (classic) | rs138382758 |
| ClinGen | rs138382758 |
| ebi | rs138382758 |
| HLI | rs138382758 |
| Exac | rs138382758 |
| Gnomad | rs138382758 |
| Varsome | rs138382758 |
| LitVar | rs138382758 |
| Map | rs138382758 |
| PheGenI | rs138382758 |
| Biobank | rs138382758 |
| 1000 genomes | rs138382758 |
| hgdp | rs138382758 |
| ensembl | rs138382758 |
| geneview | rs138382758 |
| scholar | rs138382758 |
| rs138382758 | |
| pharmgkb | rs138382758 |
| gwascentral | rs138382758 |
| openSNP | rs138382758 |
| 23andMe | rs138382758 |
| SNPshot | rs138382758 |
| SNPdbe | rs138382758 |
| MSV3d | rs138382758 |
| GWAS Ctlg | rs138382758 |
| GMAF | 0.002755 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs138382758(A;A) |
| Alt | rs138382758(A;A) |
| Reference | Rs138382758(G;G) |
| Significance | Other |
| Disease | Charcot-Marie-Tooth disease not specified Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy not provided |
| Variation | info |
| Gene | MFN2 |
| CLNDBN | Charcot-Marie-Tooth disease, type 2A2 not specified Charcot-Marie-Tooth disease, type 2 Hereditary motor and sensory neuropathy not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.12064892G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002372.4, RCV000196650.3, RCV000229623.1, RCV000312138.1, RCV000487518.1, |
