rs782726390
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs782726390(C;C) |
| Make rs782726390(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 133354959 |
| Gene | SURF1, SURF2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs782726390 |
| dbSNP (classic) | rs782726390 |
| ClinGen | rs782726390 |
| ebi | rs782726390 |
| HLI | rs782726390 |
| Exac | rs782726390 |
| Gnomad | rs782726390 |
| Varsome | rs782726390 |
| LitVar | rs782726390 |
| Map | rs782726390 |
| PheGenI | rs782726390 |
| Biobank | rs782726390 |
| 1000 genomes | rs782726390 |
| hgdp | rs782726390 |
| ensembl | rs782726390 |
| geneview | rs782726390 |
| scholar | rs782726390 |
| rs782726390 | |
| pharmgkb | rs782726390 |
| gwascentral | rs782726390 |
| openSNP | rs782726390 |
| 23andMe | rs782726390 |
| SNPshot | rs782726390 |
| SNPdbe | rs782726390 |
| MSV3d | rs782726390 |
| GWAS Ctlg | rs782726390 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs782726390(C;C) |
| Alt | rs782726390(C;C) |
| Reference | Rs782726390(T;T) |
| Significance | Pathogenic |
| Disease | Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | SURF2 SURF1 |
| CLNDBN | Charcot-Marie-Tooth disease, type 4k |
| Reversed | 0 |
| HGVS | NC_000009.11:g.136221814T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000202482.1, |
