rs146017816
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs146017816(C;G) |
| Make rs146017816(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11758471 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146017816 |
| dbSNP (classic) | rs146017816 |
| ClinGen | rs146017816 |
| ebi | rs146017816 |
| HLI | rs146017816 |
| Exac | rs146017816 |
| Gnomad | rs146017816 |
| Varsome | rs146017816 |
| LitVar | rs146017816 |
| Map | rs146017816 |
| PheGenI | rs146017816 |
| Biobank | rs146017816 |
| 1000 genomes | rs146017816 |
| hgdp | rs146017816 |
| ensembl | rs146017816 |
| geneview | rs146017816 |
| scholar | rs146017816 |
| rs146017816 | |
| pharmgkb | rs146017816 |
| gwascentral | rs146017816 |
| openSNP | rs146017816 |
| 23andMe | rs146017816 |
| SNPshot | rs146017816 |
| SNPdbe | rs146017816 |
| MSV3d | rs146017816 |
| GWAS Ctlg | rs146017816 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs146017816(G;G) rs146017816(T;T) |
| Alt | rs146017816(G;G) rs146017816(T;T) |
| Reference | Rs146017816(C;C) |
| Significance | Pathogenic |
| Disease | Atrioventricular septal defect 4 Ventricular septal defect 1 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrioventricular septal defect 4 Ventricular septal defect 1 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11615980C>G; NC_000008.10:g.11615980C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000458303.1, RCV000023007.5, |
