rs59443585
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs59443585(A;C) |
| Make rs59443585(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 24955521 |
| Gene | MIR6841, NEFL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs59443585 |
| dbSNP (classic) | rs59443585 |
| ClinGen | rs59443585 |
| ebi | rs59443585 |
| HLI | rs59443585 |
| Exac | rs59443585 |
| Gnomad | rs59443585 |
| Varsome | rs59443585 |
| LitVar | rs59443585 |
| Map | rs59443585 |
| PheGenI | rs59443585 |
| Biobank | rs59443585 |
| 1000 genomes | rs59443585 |
| hgdp | rs59443585 |
| ensembl | rs59443585 |
| geneview | rs59443585 |
| scholar | rs59443585 |
| rs59443585 | |
| pharmgkb | rs59443585 |
| gwascentral | rs59443585 |
| openSNP | rs59443585 |
| 23andMe | rs59443585 |
| SNPshot | rs59443585 |
| SNPdbe | rs59443585 |
| MSV3d | rs59443585 |
| GWAS Ctlg | rs59443585 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs59443585(C;C) |
| Alt | rs59443585(C;C) |
| Reference | Rs59443585(A;A) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease type 2E not provided |
| Variation | info |
| Gene | MIR6841 NEFL |
| CLNDBN | Charcot-Marie-Tooth disease type 2E not provided |
| Reversed | 1 |
| HGVS | NC_000008.10:g.24813035T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015072.25, RCV000057151.1, |
