Rs1042579
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042579 |
| hapmap | rs1042579 |
| hgdp | rs1042579 |
| ensembl | rs1042579 |
| gopubmed | rs1042579 |
| scholar | rs1042579 |
| rs1042579 | |
| pharmgkb | rs1042579 |
| hgvbaseg2p | rs1042579 |
| medrefsnp | rs1042579 |
| 23andMe | rs1042579 |
| SNP Nexus |
| Gene | THBD |
| Chromosome | 20 |
| Orientation | minus |
| Position | 22976723 |
| Genotype | Effect |
|---|---|
| rs1042579(C;C)* | ? |
| rs1042579(C;T)* | ? |
| rs1042579(T;T)* | ? |
| Venter snp | |
|---|---|
| Source | plos |
| Gene | THBD |
| allele | A |
| frequency | |
| sift | TOLERATED |
| HuRef | 1103643180257 |
| Disease Association | Defects in THBD may be a cause of thromboembolic disease (TED) (MIM:188040); also called inherited thrombophilia. Patients with TED have defects of the haemopoietic system which creates a tendency to the occurrence of thrombosis. TED plays an important role in the pathogenesis of various cardiovascular disorders. |