rs118203912
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 4.1 | Thrombophilia risk |
| (T;T) | 5.5 | Hemophilia A (severity varies) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 169560701 |
| Gene | F5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203912 |
| dbSNP (classic) | rs118203912 |
| ClinGen | rs118203912 |
| ebi | rs118203912 |
| HLI | rs118203912 |
| Exac | rs118203912 |
| Gnomad | rs118203912 |
| Varsome | rs118203912 |
| LitVar | rs118203912 |
| Map | rs118203912 |
| PheGenI | rs118203912 |
| Biobank | rs118203912 |
| 1000 genomes | rs118203912 |
| hgdp | rs118203912 |
| ensembl | rs118203912 |
| geneview | rs118203912 |
| scholar | rs118203912 |
| rs118203912 | |
| pharmgkb | rs118203912 |
| gwascentral | rs118203912 |
| openSNP | rs118203912 |
| 23andMe | rs118203912 |
| SNPshot | rs118203912 |
| SNPdbe | rs118203912 |
| MSV3d | rs118203912 |
| GWAS Ctlg | rs118203912 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs118203912(T;T) |
| Alt | Rs118203912(T;T) |
| Reference | Rs118203912(G;G) |
| Significance | Pathogenic |
| Disease | Thrombophilia due to activated protein C resistance |
| Variation | info |
| Gene | F5 |
| CLNDBN | Thrombophilia due to activated protein C resistance |
| Reversed | 1 |
| HGVS | NC_000001.10:g.169529939C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000679.2, |
