| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | [A heterozygous point mutation G13328A in antithrombin gene causes thrombosis]. | 16620552 | 2005 |
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|
T | 0.800 | CausalMutation | CLINVAR | Pleiotropic effects of antithrombin strand 1C substitution mutations. | 1469094 | 1992 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. | 24162787 | 2014 |
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|
T | 0.800 | GeneticVariation | CLINVAR | "CpG dinucleotides are ""hotspots"" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction." | 2615648 | 1989 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency. | 28300866 | 2017 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort. | 26748602 | 2016 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. | 6582486 | 1984 |
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|
T | 0.800 | GeneticVariation | CLINVAR | A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency. | 21325262 | 2011 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. | 31064749 | 2019 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR |