rs368489876
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs368489876(A;A) |
| Make rs368489876(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11757012 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368489876 |
| dbSNP (classic) | rs368489876 |
| ClinGen | rs368489876 |
| ebi | rs368489876 |
| HLI | rs368489876 |
| Exac | rs368489876 |
| Gnomad | rs368489876 |
| Varsome | rs368489876 |
| LitVar | rs368489876 |
| Map | rs368489876 |
| PheGenI | rs368489876 |
| Biobank | rs368489876 |
| 1000 genomes | rs368489876 |
| hgdp | rs368489876 |
| ensembl | rs368489876 |
| geneview | rs368489876 |
| scholar | rs368489876 |
| rs368489876 | |
| pharmgkb | rs368489876 |
| gwascentral | rs368489876 |
| openSNP | rs368489876 |
| 23andMe | rs368489876 |
| SNPshot | rs368489876 |
| SNPdbe | rs368489876 |
| MSV3d | rs368489876 |
| GWAS Ctlg | rs368489876 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368489876(A;A) |
| Alt | rs368489876(A;A) |
| Reference | Rs368489876(G;G) |
| Significance | Pathogenic |
| Disease | Ventricular septal defect 1 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Ventricular septal defect 1 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11614521G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023006.5, |
