rs6048
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1 | common |
| (A;G) | 1.2 | slightly lower risk (10-20%) of deep vein thrombosis |
| (G;G) | 1.2 | slightly lower risk (10-20%) of deep vein thrombosis |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 139551121 |
| Gene | F9 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6048 |
| dbSNP (classic) | rs6048 |
| ClinGen | rs6048 |
| ebi | rs6048 |
| HLI | rs6048 |
| Exac | rs6048 |
| Gnomad | rs6048 |
| Varsome | rs6048 |
| LitVar | rs6048 |
| Map | rs6048 |
| PheGenI | rs6048 |
| Biobank | rs6048 |
| 1000 genomes | rs6048 |
| hgdp | rs6048 |
| ensembl | rs6048 |
| geneview | rs6048 |
| scholar | rs6048 |
| rs6048 | |
| pharmgkb | rs6048 |
| gwascentral | rs6048 |
| openSNP | rs6048 |
| 23andMe | rs6048 |
| SNPshot | rs6048 |
| SNPdbe | rs6048 |
| MSV3d | rs6048 |
| GWAS Ctlg | rs6048 |
| GMAF | 0.1578 |
| Max Magnitude | 1.2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Gene variants associated with deep vein thrombosis.[PMID 18349091]
Updated analysis of gene variants associated with deep vein thrombosis.[PMID 20124536]
| ClinVar | |
|---|---|
| Risk | Rs6048(G;G) |
| Alt | Rs6048(G;G) |
| Reference | Rs6048(A;A) |
| Significance | Other |
| Disease | Deep venous thrombosis not specified Hemophilia B |
| Variation | info |
| Gene | F9 |
| CLNDBN | Deep venous thrombosis, protection against not specified Hemophilia B, Factor IX Deficiency |
| Reversed | 0 |
| HGVS | NC_000023.10:g.138633280A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011334.2, RCV000244191.2, RCV000396693.1, |
[PMID 19286883
] F9 Malmo, factor IX and deep vein thrombosis.
[PMID 25762219] Genetic variation influences the risk of bleeding after cardiac surgery: novel associations and validation of previous findings
