rs765591205
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs765591205(A;G) |
| Make rs765591205(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 155118744 |
| Gene | MME |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765591205 |
| dbSNP (classic) | rs765591205 |
| ClinGen | rs765591205 |
| ebi | rs765591205 |
| HLI | rs765591205 |
| Exac | rs765591205 |
| Gnomad | rs765591205 |
| Varsome | rs765591205 |
| LitVar | rs765591205 |
| Map | rs765591205 |
| PheGenI | rs765591205 |
| Biobank | rs765591205 |
| 1000 genomes | rs765591205 |
| hgdp | rs765591205 |
| ensembl | rs765591205 |
| geneview | rs765591205 |
| scholar | rs765591205 |
| rs765591205 | |
| pharmgkb | rs765591205 |
| gwascentral | rs765591205 |
| openSNP | rs765591205 |
| 23andMe | rs765591205 |
| SNPshot | rs765591205 |
| SNPdbe | rs765591205 |
| MSV3d | rs765591205 |
| GWAS Ctlg | rs765591205 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765591205(G;G) |
| Alt | rs765591205(G;G) |
| Reference | Rs765591205(A;A) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | MME |
| CLNDBN | Charcot-Marie-Tooth disease, axonal, type 2T |
| Reversed | 0 |
| HGVS | NC_000003.11:g.154836533A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234912.1, |
