| 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 | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. | 2813350 | 1989 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. | 11122101 | 2000 |
|||
|
TG | 0.700 | GeneticVariation | CLINVAR | Compound heterozygosity for two novel mutations in a severe factor XI deficiency. | 12879434 | 2003 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. | 12716376 | 2003 |
|||
|
T | 0.710 | GeneticVariation | CLINVAR | Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. | 14717969 | 2004 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. | 15953011 | 2005 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Characterisation of blood coagulation factor XI T475I. | 15968392 | 2005 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). | 16079124 | 2005 |