rs118203908
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Factor V deficiency mutation |
| (T;T) | 5.5 | Hemophilia A (severity varies) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 169542689 |
| Gene | F5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118203908 |
| dbSNP (classic) | rs118203908 |
| ClinGen | rs118203908 |
| ebi | rs118203908 |
| HLI | rs118203908 |
| Exac | rs118203908 |
| Gnomad | rs118203908 |
| Varsome | rs118203908 |
| LitVar | rs118203908 |
| Map | rs118203908 |
| PheGenI | rs118203908 |
| Biobank | rs118203908 |
| 1000 genomes | rs118203908 |
| hgdp | rs118203908 |
| ensembl | rs118203908 |
| geneview | rs118203908 |
| scholar | rs118203908 |
| rs118203908 | |
| pharmgkb | rs118203908 |
| gwascentral | rs118203908 |
| openSNP | rs118203908 |
| 23andMe | rs118203908 |
| SNPshot | rs118203908 |
| SNPdbe | rs118203908 |
| MSV3d | rs118203908 |
| GWAS Ctlg | rs118203908 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs118203908(T;T) |
| Alt | Rs118203908(T;T) |
| Reference | Rs118203908(C;C) |
| Significance | Pathogenic |
| Disease | Factor V deficiency |
| Variation | info |
| Gene | F5 |
| CLNDBN | Factor V deficiency |
| Reversed | 1 |
| HGVS | NC_000001.10:g.169511927G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000684.2, |
