rs121965063
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of factor XI mutation |
| (T;T) | 5 | Factor XI deficiency |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186274193 |
| Gene | F11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121965063 |
| dbSNP (classic) | rs121965063 |
| ClinGen | rs121965063 |
| ebi | rs121965063 |
| HLI | rs121965063 |
| Exac | rs121965063 |
| Gnomad | rs121965063 |
| Varsome | rs121965063 |
| LitVar | rs121965063 |
| Map | rs121965063 |
| PheGenI | rs121965063 |
| Biobank | rs121965063 |
| 1000 genomes | rs121965063 |
| hgdp | rs121965063 |
| ensembl | rs121965063 |
| geneview | rs121965063 |
| scholar | rs121965063 |
| rs121965063 | |
| pharmgkb | rs121965063 |
| gwascentral | rs121965063 |
| openSNP | rs121965063 |
| 23andMe | rs121965063 |
| SNPshot | rs121965063 |
| SNPdbe | rs121965063 |
| MSV3d | rs121965063 |
| GWAS Ctlg | rs121965063 |
| Max Magnitude | 5 |
rs121965063, also known as E117X or Glu117Ter, is a SNP in the coagulation factor XI F11 gene.
This SNP is reported by 23andMe as one of the three most common factor XI deficiency-causing mutations in Ashkenazi Jews; it is reported as i4000398 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs121965063(T;T) |
| Alt | Rs121965063(T;T) |
| Reference | Rs121965063(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary factor XI deficiency disease not provided |
| Variation | info |
| Gene | F11 |
| CLNDBN | Hereditary factor XI deficiency disease not provided |
| Reversed | 0 |
| HGVS | NC_000004.11:g.187195347G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012666.24, RCV000311271.1, |
