SERPINA1, serpin family A member 1, 5265
N. diseases: 482; N. variants: 61
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.710 | GeneticVariation | BEFREE | The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD. | 25454901 | 2015 | |||||||
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0.710 | GeneticVariation | BEFREE | The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD. | 25454901 | 2015 | |||||||
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T | 0.710 | CausalMutation | CLINVAR | DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. | 2989709 | 1985 | ||||||
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A | 0.710 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | PI*S(iiyama), a deficiency gene of alpha 1-antitrypsin: evidence for the occurrence in western Japan. | 8358043 | 1993 | ||||||
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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 basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele. | 1967187 | 1990 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. | 2254451 | 1990 | ||||||
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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 | CausalMutation | CLINVAR | Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). | 2606478 | 1989 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. | 2786335 | 1989 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | "Characterization of the gene and protein of the alpha 1-antitrypsin ""deficiency"" allele Mprocida." | 3262617 | 1988 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR |