Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929474
rs28929474
SERPINA1
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
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.710 CausalMutation CLINVAR DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. 2989709

1985