Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931572
rs28931572
T 0.700 CausalMutation CLINVAR Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. 14985567

2004

dbSNP: rs28931572
rs28931572
T 0.700 CausalMutation CLINVAR A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure. 2254451

1990