rs28933678
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 |
| (G;T) | 3.5 | Carrier of a Hemophilia A mutation |
| (T;T) | 5.5 | Hemophilia A (severity varies) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154904518 |
| Gene | F8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933678 |
| dbSNP (classic) | rs28933678 |
| ClinGen | rs28933678 |
| ebi | rs28933678 |
| HLI | rs28933678 |
| Exac | rs28933678 |
| Gnomad | rs28933678 |
| Varsome | rs28933678 |
| LitVar | rs28933678 |
| Map | rs28933678 |
| PheGenI | rs28933678 |
| Biobank | rs28933678 |
| 1000 genomes | rs28933678 |
| hgdp | rs28933678 |
| ensembl | rs28933678 |
| geneview | rs28933678 |
| scholar | rs28933678 |
| rs28933678 | |
| pharmgkb | rs28933678 |
| gwascentral | rs28933678 |
| openSNP | rs28933678 |
| 23andMe | rs28933678 |
| SNPshot | rs28933678 |
| SNPdbe | rs28933678 |
| MSV3d | rs28933678 |
| GWAS Ctlg | rs28933678 |
| Max Magnitude | 5.5 |
| OMIM | 306700 |
| Desc | Hemophilia A |
| Variant | 0203 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | Rs28933678(A;A) Rs28933678(T;T) |
| Alt | Rs28933678(A;A) Rs28933678(T;T) |
| Reference | Rs28933678(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.154132793C>A; NC_000023.10:g.154132793C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011000.5, RCV000010999.4, |
