rs760474458
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs760474458(C;C) |
| Make rs760474458(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 2496267 |
| Gene | TBC1D24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760474458 |
| dbSNP (classic) | rs760474458 |
| ClinGen | rs760474458 |
| ebi | rs760474458 |
| HLI | rs760474458 |
| Exac | rs760474458 |
| Gnomad | rs760474458 |
| Varsome | rs760474458 |
| LitVar | rs760474458 |
| Map | rs760474458 |
| PheGenI | rs760474458 |
| Biobank | rs760474458 |
| 1000 genomes | rs760474458 |
| hgdp | rs760474458 |
| ensembl | rs760474458 |
| geneview | rs760474458 |
| scholar | rs760474458 |
| rs760474458 | |
| pharmgkb | rs760474458 |
| gwascentral | rs760474458 |
| openSNP | rs760474458 |
| 23andMe | rs760474458 |
| SNPshot | rs760474458 |
| SNPdbe | rs760474458 |
| MSV3d | rs760474458 |
| GWAS Ctlg | rs760474458 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760474458(C;C) rs760474458(T;T) |
| Alt | rs760474458(C;C) rs760474458(T;T) |
| Reference | Rs760474458(G;G) |
| Significance | Pathogenic |
| Disease | Digitorenocerebral syndrome |
| Variation | info |
| Gene | TBC1D24 |
| CLNDBN | Digitorenocerebral syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2546268G>T |
| CLNSRC | |
| CLNACC | RCV000192066.1, |
