rs747821285
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs747821285(A;A) |
| Make rs747821285(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 2496476 |
| Gene | TBC1D24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs747821285 |
| dbSNP (classic) | rs747821285 |
| ClinGen | rs747821285 |
| ebi | rs747821285 |
| HLI | rs747821285 |
| Exac | rs747821285 |
| Gnomad | rs747821285 |
| Varsome | rs747821285 |
| LitVar | rs747821285 |
| Map | rs747821285 |
| PheGenI | rs747821285 |
| Biobank | rs747821285 |
| 1000 genomes | rs747821285 |
| hgdp | rs747821285 |
| ensembl | rs747821285 |
| geneview | rs747821285 |
| scholar | rs747821285 |
| rs747821285 | |
| pharmgkb | rs747821285 |
| gwascentral | rs747821285 |
| openSNP | rs747821285 |
| 23andMe | rs747821285 |
| SNPshot | rs747821285 |
| SNPdbe | rs747821285 |
| MSV3d | rs747821285 |
| GWAS Ctlg | rs747821285 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs747821285(A;A) |
| Alt | rs747821285(A;A) |
| Reference | Rs747821285(G;G) |
| Significance | Pathogenic |
| Disease | Digitorenocerebral syndrome not provided |
| Variation | info |
| Gene | TBC1D24 |
| CLNDBN | Digitorenocerebral syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2546477G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000192068.1, RCV000420758.1, |
