| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. | 17598838 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. | 17598838 | 2007 |
||||
|
0.800 | GeneticVariation | UNIPROT | Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). | 14652634 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). | 14652634 | 2003 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. | 17598838 | 2007 |
||||
|
0.700 | GeneticVariation | UNIPROT | Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). | 14652634 | 2003 |
||||
|
A | 0.700 | GeneticVariation | CLINVAR | Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401-->Glu mutation. | 12871337 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |