rs879253751
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs879253751(C;T) |
| Make rs879253751(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 155118752 |
| Gene | MME |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879253751 |
| dbSNP (classic) | rs879253751 |
| ClinGen | rs879253751 |
| ebi | rs879253751 |
| HLI | rs879253751 |
| Exac | rs879253751 |
| Gnomad | rs879253751 |
| Varsome | rs879253751 |
| LitVar | rs879253751 |
| Map | rs879253751 |
| PheGenI | rs879253751 |
| Biobank | rs879253751 |
| 1000 genomes | rs879253751 |
| hgdp | rs879253751 |
| ensembl | rs879253751 |
| geneview | rs879253751 |
| scholar | rs879253751 |
| rs879253751 | |
| pharmgkb | rs879253751 |
| gwascentral | rs879253751 |
| openSNP | rs879253751 |
| 23andMe | rs879253751 |
| SNPshot | rs879253751 |
| SNPdbe | rs879253751 |
| MSV3d | rs879253751 |
| GWAS Ctlg | rs879253751 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879253751(T;T) |
| Alt | rs879253751(T;T) |
| Reference | Rs879253751(C;C) |
| 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.154836541C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000234916.1, |
