rs56208331
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs56208331(A;A) |
| Make rs56208331(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11758419 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56208331 |
| dbSNP (classic) | rs56208331 |
| ClinGen | rs56208331 |
| ebi | rs56208331 |
| HLI | rs56208331 |
| Exac | rs56208331 |
| Gnomad | rs56208331 |
| Varsome | rs56208331 |
| LitVar | rs56208331 |
| Map | rs56208331 |
| PheGenI | rs56208331 |
| Biobank | rs56208331 |
| 1000 genomes | rs56208331 |
| hgdp | rs56208331 |
| ensembl | rs56208331 |
| geneview | rs56208331 |
| scholar | rs56208331 |
| rs56208331 | |
| pharmgkb | rs56208331 |
| gwascentral | rs56208331 |
| openSNP | rs56208331 |
| 23andMe | rs56208331 |
| SNPshot | rs56208331 |
| SNPdbe | rs56208331 |
| MSV3d | rs56208331 |
| GWAS Ctlg | rs56208331 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56208331(A;A) rs56208331(T;T) |
| Alt | rs56208331(A;A) rs56208331(T;T) |
| Reference | Rs56208331(G;G) |
| Significance | Pathogenic |
| Disease | Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrial septal defect 2 Tetralogy of Fallot Inborn genetic diseases not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11615928G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009600.3, RCV000009601.3, RCV000190715.1, RCV000431077.1, |
