rs121965064
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | Factor XI deficiency |
| (C;T) | 3 | carrier of factor XI mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 186280258 |
| Gene | F11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121965064 |
| dbSNP (classic) | rs121965064 |
| ClinGen | rs121965064 |
| ebi | rs121965064 |
| HLI | rs121965064 |
| Exac | rs121965064 |
| Gnomad | rs121965064 |
| Varsome | rs121965064 |
| LitVar | rs121965064 |
| Map | rs121965064 |
| PheGenI | rs121965064 |
| Biobank | rs121965064 |
| 1000 genomes | rs121965064 |
| hgdp | rs121965064 |
| ensembl | rs121965064 |
| geneview | rs121965064 |
| scholar | rs121965064 |
| rs121965064 | |
| pharmgkb | rs121965064 |
| gwascentral | rs121965064 |
| openSNP | rs121965064 |
| 23andMe | rs121965064 |
| SNPshot | rs121965064 |
| SNPdbe | rs121965064 |
| MSV3d | rs121965064 |
| GWAS Ctlg | rs121965064 |
| Max Magnitude | 5 |
rs121965064, also known as F283L or Phe283Leu, is a SNP in the coagulation factor XI F11 gene.
This SNP is reported as one of the three most common factor XI-deficiency causing mutations in Ashkenazi Jews; it is reported as i4000399 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs121965064(C;C) |
| Alt | Rs121965064(C;C) |
| Reference | Rs121965064(T;T) |
| 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.187201412T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012667.16, |
