rs115372595
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs115372595(C;T) |
| Make rs115372595(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11756974 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs115372595 |
| dbSNP (classic) | rs115372595 |
| ClinGen | rs115372595 |
| ebi | rs115372595 |
| HLI | rs115372595 |
| Exac | rs115372595 |
| Gnomad | rs115372595 |
| Varsome | rs115372595 |
| LitVar | rs115372595 |
| Map | rs115372595 |
| PheGenI | rs115372595 |
| Biobank | rs115372595 |
| 1000 genomes | rs115372595 |
| hgdp | rs115372595 |
| ensembl | rs115372595 |
| geneview | rs115372595 |
| scholar | rs115372595 |
| rs115372595 | |
| pharmgkb | rs115372595 |
| gwascentral | rs115372595 |
| openSNP | rs115372595 |
| 23andMe | rs115372595 |
| SNPshot | rs115372595 |
| SNPdbe | rs115372595 |
| MSV3d | rs115372595 |
| GWAS Ctlg | rs115372595 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs115372595(T;T) |
| Alt | rs115372595(T;T) |
| Reference | Rs115372595(C;C) |
| Significance | Other |
| Disease | Atrioventricular septal defect 4 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrioventricular septal defect 4 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11614483C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023005.5, |
