rs191346286
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs191346286(G;T) |
| Make rs191346286(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 24953704 |
| Gene | MIR6841, NEFL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs191346286 |
| dbSNP (classic) | rs191346286 |
| ClinGen | rs191346286 |
| ebi | rs191346286 |
| HLI | rs191346286 |
| Exac | rs191346286 |
| Gnomad | rs191346286 |
| Varsome | rs191346286 |
| LitVar | rs191346286 |
| Map | rs191346286 |
| PheGenI | rs191346286 |
| Biobank | rs191346286 |
| 1000 genomes | rs191346286 |
| hgdp | rs191346286 |
| ensembl | rs191346286 |
| geneview | rs191346286 |
| scholar | rs191346286 |
| rs191346286 | |
| pharmgkb | rs191346286 |
| gwascentral | rs191346286 |
| openSNP | rs191346286 |
| 23andMe | rs191346286 |
| SNPshot | rs191346286 |
| SNPdbe | rs191346286 |
| MSV3d | rs191346286 |
| GWAS Ctlg | rs191346286 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs191346286(A;A) rs191346286(T;T) |
| Alt | rs191346286(A;A) rs191346286(T;T) |
| Reference | Rs191346286(G;G) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease type 2E |
| Variation | info |
| Gene | MIR6841 NEFL |
| CLNDBN | Charcot-Marie-Tooth disease type 2E |
| Reversed | 0 |
| HGVS | NC_000008.10:g.24811218G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000172912.2, |
