rs770128720
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TCTTA;TCTTA) | 0 | common in clinvar |
| Make rs770128720(-;-) |
| Make rs770128720(-;TCTTA) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 13 |
| Position | 108209514 |
| Gene | LIG4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs770128720 |
| dbSNP (classic) | rs770128720 |
| ClinGen | rs770128720 |
| ebi | rs770128720 |
| HLI | rs770128720 |
| Exac | rs770128720 |
| Gnomad | rs770128720 |
| Varsome | rs770128720 |
| LitVar | rs770128720 |
| Map | rs770128720 |
| PheGenI | rs770128720 |
| Biobank | rs770128720 |
| 1000 genomes | rs770128720 |
| hgdp | rs770128720 |
| ensembl | rs770128720 |
| geneview | rs770128720 |
| scholar | rs770128720 |
| rs770128720 | |
| pharmgkb | rs770128720 |
| gwascentral | rs770128720 |
| openSNP | rs770128720 |
| 23andMe | rs770128720 |
| SNPshot | rs770128720 |
| SNPdbe | rs770128720 |
| MSV3d | rs770128720 |
| GWAS Ctlg | rs770128720 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs770128720(-;-) |
| Alt | rs770128720(-;-) |
| Reference | Rs770128720(TCTTA;TCTTA) |
| Significance | Pathogenic |
| Disease | Lig4 syndrome |
| Variation | info |
| Gene | LIG4 |
| CLNDBN | Lig4 syndrome |
| Reversed | 0 |
| HGVS | NC_000013.10:g.108861862_108861866delTCTTA |
| CLNSRC | |
| CLNACC | RCV000328813.1, |
