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rs17580(A;T)

From SNPedia

Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency
Is agenotype
ofrs17580
GeneSERPINA1
Chromosome14
Position94,380,925
mentionedby
Magnitude2.5
ReputeBad
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;T) 2.5 Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency
(T;T) 2.5 a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency

This genotype corresponds to a carrier of one PiS variant for alpha-1-antitrypsin deficiency; individual carrying two PiS variants have 60% of normal enzymatic activity. On its own, carrying one PiS variant has little consequence, however, 3-4% of individuals carrying one PiS variant also carry one copy of the more severe PiZ variant, rs28929474(A), which is associated with an increased risk of emphysema and COPD.