rs104894073
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs104894073(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11750213 |
| Gene | GATA4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894073 |
| dbSNP (classic) | rs104894073 |
| ClinGen | rs104894073 |
| ebi | rs104894073 |
| HLI | rs104894073 |
| Exac | rs104894073 |
| Gnomad | rs104894073 |
| Varsome | rs104894073 |
| LitVar | rs104894073 |
| Map | rs104894073 |
| PheGenI | rs104894073 |
| Biobank | rs104894073 |
| 1000 genomes | rs104894073 |
| hgdp | rs104894073 |
| ensembl | rs104894073 |
| geneview | rs104894073 |
| scholar | rs104894073 |
| rs104894073 | |
| pharmgkb | rs104894073 |
| gwascentral | rs104894073 |
| openSNP | rs104894073 |
| 23andMe | rs104894073 |
| SNPshot | rs104894073 |
| SNPdbe | rs104894073 |
| MSV3d | rs104894073 |
| GWAS Ctlg | rs104894073 |
| Max Magnitude | 0 |
rs104894073, also known as c.886G>A, p.Gly296Ser and G296S, represents a rare variant in the GATA4 gene.
Inherited in an autosomal dominant manner, the rs104894073(A) allele is considered a causative mutation for atrial septal defect, type 2.[PMID 12845333]
| ClinVar | |
|---|---|
| Risk | rs104894073(A;A) rs104894073(C;C) rs104894073(T;T) |
| Alt | rs104894073(A;A) rs104894073(C;C) rs104894073(T;T) |
| Reference | Rs104894073(G;G) |
| Significance | Pathogenic |
| Disease | Atrial septal defect 2 Ventricular septal defect 1 |
| Variation | info |
| Gene | GATA4 |
| CLNDBN | Atrial septal defect 2 Ventricular septal defect 1 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11607722G>A; NC_000008.10:g.11607722G>C; NC_000008.10:g.11607722G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009596.2, RCV000023011.6, RCV000023001.3, |
