rs145770066
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs145770066(C;T) |
| Make rs145770066(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 49830790 |
| Gene | MED25, MIR6800 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145770066 |
| dbSNP (classic) | rs145770066 |
| ClinGen | rs145770066 |
| ebi | rs145770066 |
| HLI | rs145770066 |
| Exac | rs145770066 |
| Gnomad | rs145770066 |
| Varsome | rs145770066 |
| LitVar | rs145770066 |
| Map | rs145770066 |
| PheGenI | rs145770066 |
| Biobank | rs145770066 |
| 1000 genomes | rs145770066 |
| hgdp | rs145770066 |
| ensembl | rs145770066 |
| geneview | rs145770066 |
| scholar | rs145770066 |
| rs145770066 | |
| pharmgkb | rs145770066 |
| gwascentral | rs145770066 |
| openSNP | rs145770066 |
| 23andMe | rs145770066 |
| SNPshot | rs145770066 |
| SNPdbe | rs145770066 |
| MSV3d | rs145770066 |
| GWAS Ctlg | rs145770066 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145770066(T;T) |
| Alt | rs145770066(T;T) |
| Reference | Rs145770066(C;C) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease type 2B2 not specified Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided |
| Variation | info |
| Gene | MED25 MIR6800 |
| CLNDBN | Charcot-Marie-Tooth disease type 2B2 not specified Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2 not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.50334047C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001387.6, RCV000180690.2, RCV000192241.1, RCV000203675.2, RCV000416086.1, |
