| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TGA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect. | 17229051 | 2007 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. | 11122101 | 2000 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Characterisation of blood coagulation factor XI T475I. | 15968392 | 2005 |
|||
|
T | 0.710 | GeneticVariation | CLINVAR | Characterisation of five factor XI mutations. | 17549289 | 2007 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Characterization of the genetic basis of FXI deficiency in two Turkish patients. | 20015217 | 2010 |
|||
|
T | 0.710 | GeneticVariation | CLINVAR | Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. | 27067486 | 2016 |
|||
|
TG | 0.700 | GeneticVariation | CLINVAR | Compound heterozygosity for two novel mutations in a severe factor XI deficiency. | 12879434 | 2003 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency. | 24982842 | 2014 |