Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800463
rs1800463
SERPINA3
0.030 GeneticVariation BEFREE In particular, this intermediate, along with the latent and polymerized conformations, explains the loss of activity of plasma alpha(1)-antichymotrypsin associated with chronic obstructive pulmonary disease in patients with the Leu-55-Pro mutation. 10618372

2000
dbSNP: rs1800463
rs1800463
SERPINA3
0.030 GeneticVariation BEFREE Previous studies have suggested that two of these mutations (Pro227-->Ala and Leu55-->Pro) predispose to chronic obstructive pulmonary disease (COPD). 9553741

1998
dbSNP: rs1800463
rs1800463
SERPINA3
0.030 GeneticVariation BEFREE A leucine 55-to-proline substitution causing a defective ACT allele (Bochum-1) was observed in a family with COPD in three subsequent generations. 8244391

1993