| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. | 1427427 | 1992 | |||||||
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0.010 | GeneticVariation | BEFREE | Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis. | 1427427 | 1992 | |||||||
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0.010 | GeneticVariation | BEFREE | rs1243166, rs9944155, and rs1051052</span> sites of Alpha-1-AT may be associated with the COPD morbidity in Uygur population. | 29521291 | 2018 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. | 14985567 | 2004 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.710 | CausalMutation | CLINVAR | Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). | 2227940 | 1990 | ||||||
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0.710 | GeneticVariation | BEFREE | Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). | 2227940 | 1990 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). | 2227940 | 1990 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu). | 2227940 | 1990 | ||||||
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A | 0.700 | GeneticVariation | GWASCAT | Genomic atlas of the human plasma proteome. | 29875488 | 2018 | ||||||
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0.010 | GeneticVariation | BEFREE | In human α1-antitrypsin deficiency, homozygous carriers of the Z (E324K) mutation in the gene SERPINA1 have insufficient circulating α1-antitrypsin and are predisposed to emphysema. | 31091192 | 2019 | |||||||
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C | 0.700 | CausalMutation | CLINVAR | Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. | 14985567 | 2004 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. | 1569192 | 1992 | |||||||
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0.010 | GeneticVariation | BEFREE | Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. | 1569192 | 1992 | |||||||
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A | 0.700 | CausalMutation | CLINVAR | The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. | 2787118 | 1989 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area. | 21474916 | 2011 |