rs765965968
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs765965968(G;T) |
| Make rs765965968(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 2498333 |
| Gene | TBC1D24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765965968 |
| dbSNP (classic) | rs765965968 |
| ClinGen | rs765965968 |
| ebi | rs765965968 |
| HLI | rs765965968 |
| Exac | rs765965968 |
| Gnomad | rs765965968 |
| Varsome | rs765965968 |
| LitVar | rs765965968 |
| Map | rs765965968 |
| PheGenI | rs765965968 |
| Biobank | rs765965968 |
| 1000 genomes | rs765965968 |
| hgdp | rs765965968 |
| ensembl | rs765965968 |
| geneview | rs765965968 |
| scholar | rs765965968 |
| rs765965968 | |
| pharmgkb | rs765965968 |
| gwascentral | rs765965968 |
| openSNP | rs765965968 |
| 23andMe | rs765965968 |
| SNPshot | rs765965968 |
| SNPdbe | rs765965968 |
| MSV3d | rs765965968 |
| GWAS Ctlg | rs765965968 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765965968(A;A) rs765965968(T;T) |
| Alt | rs765965968(A;A) rs765965968(T;T) |
| Reference | Rs765965968(G;G) |
| Significance | Pathogenic |
| Disease | Progressive myoclonus epilepsy with ataxia |
| Variation | info |
| Gene | TBC1D24 |
| CLNDBN | Progressive myoclonus epilepsy with ataxia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.2548334G>T |
| CLNSRC | |
| CLNACC | RCV000192071.1, |
