rs748112833
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs748112833(A;A) |
| Make rs748112833(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 64497987 |
| Gene | TBK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748112833 |
| dbSNP (classic) | rs748112833 |
| ClinGen | rs748112833 |
| ebi | rs748112833 |
| HLI | rs748112833 |
| Exac | rs748112833 |
| Gnomad | rs748112833 |
| Varsome | rs748112833 |
| LitVar | rs748112833 |
| Map | rs748112833 |
| PheGenI | rs748112833 |
| Biobank | rs748112833 |
| 1000 genomes | rs748112833 |
| hgdp | rs748112833 |
| ensembl | rs748112833 |
| geneview | rs748112833 |
| scholar | rs748112833 |
| rs748112833 | |
| pharmgkb | rs748112833 |
| gwascentral | rs748112833 |
| openSNP | rs748112833 |
| 23andMe | rs748112833 |
| SNPshot | rs748112833 |
| SNPdbe | rs748112833 |
| MSV3d | rs748112833 |
| GWAS Ctlg | rs748112833 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748112833(A;A) |
| Alt | rs748112833(A;A) |
| Reference | Rs748112833(G;G) |
| Significance | Pathogenic |
| Disease | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| Variation | info |
| Gene | TBK1 |
| CLNDBN | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
| Reversed | 0 |
| HGVS | NC_000012.11:g.64891767G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000185600.2, |
