Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 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 | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | A classification system for cross-reactive material-negative factor XI deficiency. | 15728123 | 2005 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | A classification system for cross-reactive material-negative factor XI deficiency. | 15728123 | 2005 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. | 15140127 | 2004 |
|||
|
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 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Characterisation of five factor XI mutations. | 17549289 | 2007 |