rs3176123
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3176123(A;C) |
| Make rs3176123(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 23046776 |
| Gene | THBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3176123 |
| dbSNP (classic) | rs3176123 |
| ClinGen | rs3176123 |
| ebi | rs3176123 |
| HLI | rs3176123 |
| Exac | rs3176123 |
| Gnomad | rs3176123 |
| Varsome | rs3176123 |
| LitVar | rs3176123 |
| Map | rs3176123 |
| PheGenI | rs3176123 |
| Biobank | rs3176123 |
| 1000 genomes | rs3176123 |
| hgdp | rs3176123 |
| ensembl | rs3176123 |
| geneview | rs3176123 |
| scholar | rs3176123 |
| rs3176123 | |
| pharmgkb | rs3176123 |
| gwascentral | rs3176123 |
| openSNP | rs3176123 |
| 23andMe | rs3176123 |
| SNPshot | rs3176123 |
| SNPdbe | rs3176123 |
| MSV3d | rs3176123 |
| GWAS Ctlg | rs3176123 |
| GMAF | 0.1685 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 21911804
] Thrombomodulin gene variants are associated with increased mortality after coronary artery bypass surgery in replicated analyses
[PMID 18035074] Association of polymorphisms in platelet and hemostasis system genes with acute myocardial infarction.
[PMID 24602049] Association of gene polymorphisms with the risk of warfarin bleeding complications at therapeutic INR in patients with mechanical cardiac valves
[PMID 25225421] Single-Nucleotide Polymorphisms Within the Thrombomodulin Gene (THBD) Predict Mortality in Patients With Graft-Versus-Host Disease
| ClinVar | |
|---|---|
| Risk | rs3176123(C;C) |
| Alt | rs3176123(C;C) |
| Reference | Rs3176123(A;A) |
| Significance | Non-pathogenic |
| Disease | Atypical hemolytic uremic syndrome |
| Variation | info |
| Gene | THBD |
| CLNDBN | Atypical hemolytic uremic syndrome |
| Reversed | 1 |
| HGVS | NC_000020.10:g.23027413T>G |
| CLNSRC | |
| CLNACC | RCV000367420.1, |
