rs28937289
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.5 | Hemophilia A (severity varies) |
| (A;G) | 3.5 | Carrier of a Hemophilia A mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154906457 |
| Gene | F8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937289 |
| dbSNP (classic) | rs28937289 |
| ClinGen | rs28937289 |
| ebi | rs28937289 |
| HLI | rs28937289 |
| Exac | rs28937289 |
| Gnomad | rs28937289 |
| Varsome | rs28937289 |
| LitVar | rs28937289 |
| Map | rs28937289 |
| PheGenI | rs28937289 |
| Biobank | rs28937289 |
| 1000 genomes | rs28937289 |
| hgdp | rs28937289 |
| ensembl | rs28937289 |
| geneview | rs28937289 |
| scholar | rs28937289 |
| rs28937289 | |
| pharmgkb | rs28937289 |
| gwascentral | rs28937289 |
| openSNP | rs28937289 |
| 23andMe | rs28937289 |
| SNPshot | rs28937289 |
| SNPdbe | rs28937289 |
| MSV3d | rs28937289 |
| GWAS Ctlg | rs28937289 |
| Max Magnitude | 5.5 |
| OMIM | 306700 |
| Desc | Hemophilia A |
| Variant | 0190 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | Rs28937289(A;A) |
| Alt | Rs28937289(A;A) |
| Reference | Rs28937289(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary factor VIII deficiency disease |
| Variation | info |
| Gene | F8 |
| CLNDBN | Hereditary factor VIII deficiency disease |
| Reversed | 1 |
| HGVS | NC_000023.10:g.154134732C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010986.5, |
