rs113068438
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs113068438(A;G) |
| Make rs113068438(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 62475514 |
| Gene | GATA5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113068438 |
| dbSNP (classic) | rs113068438 |
| ClinGen | rs113068438 |
| ebi | rs113068438 |
| HLI | rs113068438 |
| Exac | rs113068438 |
| Gnomad | rs113068438 |
| Varsome | rs113068438 |
| LitVar | rs113068438 |
| Map | rs113068438 |
| PheGenI | rs113068438 |
| Biobank | rs113068438 |
| 1000 genomes | rs113068438 |
| hgdp | rs113068438 |
| ensembl | rs113068438 |
| geneview | rs113068438 |
| scholar | rs113068438 |
| rs113068438 | |
| pharmgkb | rs113068438 |
| gwascentral | rs113068438 |
| openSNP | rs113068438 |
| 23andMe | rs113068438 |
| SNPshot | rs113068438 |
| SNPdbe | rs113068438 |
| MSV3d | rs113068438 |
| GWAS Ctlg | rs113068438 |
| Max Magnitude | 0 |
[PMID 24922888] 95 Identification Of Likely Pathogenic Variants In Patients With Bicuspid Aortic Valve: Correlation Of Complex Genotype With A More Severe Aortic Phenotype
| ClinVar | |
|---|---|
| Risk | rs113068438(G;G) |
| Alt | rs113068438(G;G) |
| Reference | Rs113068438(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Thoracic aortic aneurysm and aortic dissection |
| Variation | info |
| Gene | GATA5 |
| CLNDBN | Thoracic aortic aneurysm and aortic dissection |
| Reversed | 1 |
| HGVS | NC_000020.10:g.61050570T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000157239.1, |
