rs115099192
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs115099192(A;A) |
| Make rs115099192(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 8 |
| Position | 11758366 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115099192 |
| dbSNP (classic) | rs115099192 |
| ClinGen | rs115099192 |
| ebi | rs115099192 |
| HLI | rs115099192 |
| Exac | rs115099192 |
| Gnomad | rs115099192 |
| Varsome | rs115099192 |
| LitVar | rs115099192 |
| Map | rs115099192 |
| PheGenI | rs115099192 |
| Biobank | rs115099192 |
| 1000 genomes | rs115099192 |
| hgdp | rs115099192 |
| ensembl | rs115099192 |
| geneview | rs115099192 |
| scholar | rs115099192 |
| rs115099192 | |
| pharmgkb | rs115099192 |
| gwascentral | rs115099192 |
| openSNP | rs115099192 |
| 23andMe | rs115099192 |
| SNPshot | rs115099192 |
| SNPdbe | rs115099192 |
| MSV3d | rs115099192 |
| GWAS Ctlg | rs115099192 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115099192(A;A) rs115099192(G;G) |
| Alt | rs115099192(A;A) rs115099192(G;G) |
| Reference | Rs115099192(C;C) |
| Significance | Pathogenic |
| Disease | Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Tetralogy of Fallot Ventricular septal defect 1 Atrial septal defect 2 Atrioventricular septal defect 4 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11615875C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023008.3, RCV000030949.3, RCV000490358.1, |
