rs28934608
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of factor XI mutation |
| (T;T) | 5 | Factor XI deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186280333 |
| Gene | F11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28934608 |
| dbSNP (classic) | rs28934608 |
| ClinGen | rs28934608 |
| ebi | rs28934608 |
| HLI | rs28934608 |
| Exac | rs28934608 |
| Gnomad | rs28934608 |
| Varsome | rs28934608 |
| LitVar | rs28934608 |
| Map | rs28934608 |
| PheGenI | rs28934608 |
| Biobank | rs28934608 |
| 1000 genomes | rs28934608 |
| hgdp | rs28934608 |
| ensembl | rs28934608 |
| geneview | rs28934608 |
| scholar | rs28934608 |
| rs28934608 | |
| pharmgkb | rs28934608 |
| gwascentral | rs28934608 |
| openSNP | rs28934608 |
| 23andMe | rs28934608 |
| SNPshot | rs28934608 |
| SNPdbe | rs28934608 |
| MSV3d | rs28934608 |
| GWAS Ctlg | rs28934608 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs28934608(T;T) |
| Alt | Rs28934608(T;T) |
| Reference | Rs28934608(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary factor XI deficiency disease |
| Variation | info |
| Gene | F11 |
| CLNDBN | Hereditary factor XI deficiency disease |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187201487C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012673.19, |
