rs1042579
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1042579(C;T) |
| Make rs1042579(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 23048087 |
| Gene | THBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042579 |
| dbSNP (classic) | rs1042579 |
| ClinGen | rs1042579 |
| ebi | rs1042579 |
| HLI | rs1042579 |
| Exac | rs1042579 |
| Gnomad | rs1042579 |
| Varsome | rs1042579 |
| LitVar | rs1042579 |
| Map | rs1042579 |
| PheGenI | rs1042579 |
| Biobank | rs1042579 |
| 1000 genomes | rs1042579 |
| hgdp | rs1042579 |
| ensembl | rs1042579 |
| geneview | rs1042579 |
| scholar | rs1042579 |
| rs1042579 | |
| pharmgkb | rs1042579 |
| gwascentral | rs1042579 |
| openSNP | rs1042579 |
| 23andMe | rs1042579 |
| SNPshot | rs1042579 |
| SNPdbe | rs1042579 |
| MSV3d | rs1042579 |
| GWAS Ctlg | rs1042579 |
| GMAF | 0.1648 |
| Max Magnitude | 0 |
[PMID 21911804
] Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses
[PMID 16820586] Inflammatory gene polymorphisms and risk of postoperative myocardial infarction after cardiac surgery.
[PMID 17677000] Combined effects of thrombosis pathway gene variants predict cardiovascular events.
[PMID 18035074] Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.
[PMID 25225421] Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease
| ClinVar | |
|---|---|
| Risk | rs1042579(T;T) |
| Alt | rs1042579(T;T) |
| Reference | Rs1042579(C;C) |
| Significance | Non-pathogenic |
| Disease | Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | THBD |
| CLNDBN | Atypical hemolytic uremic syndrome |
| Reversed | 1 |
| HGVS | NC_000020.10:g.23028724G>A |
| CLNSRC | |
| CLNACC | RCV000302594.1, |
