rs56298569
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs56298569(C;G) |
| Make rs56298569(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11755082 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56298569 |
| dbSNP (classic) | rs56298569 |
| ClinGen | rs56298569 |
| ebi | rs56298569 |
| HLI | rs56298569 |
| Exac | rs56298569 |
| Gnomad | rs56298569 |
| Varsome | rs56298569 |
| LitVar | rs56298569 |
| Map | rs56298569 |
| PheGenI | rs56298569 |
| Biobank | rs56298569 |
| 1000 genomes | rs56298569 |
| hgdp | rs56298569 |
| ensembl | rs56298569 |
| geneview | rs56298569 |
| scholar | rs56298569 |
| rs56298569 | |
| pharmgkb | rs56298569 |
| gwascentral | rs56298569 |
| openSNP | rs56298569 |
| 23andMe | rs56298569 |
| SNPshot | rs56298569 |
| SNPdbe | rs56298569 |
| MSV3d | rs56298569 |
| GWAS Ctlg | rs56298569 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs56298569(G;G) rs56298569(T;T) |
| Alt | rs56298569(G;G) rs56298569(T;T) |
| Reference | Rs56298569(C;C) |
| Significance | Pathogenic |
| Disease | Atrial septal defect 2 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrial septal defect 2 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11612591C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009599.2, |
