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rs17580(A;T)

From SNPedia

carrier of a variant in 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 a variant in Alpha-1 Antitrypsin Deficiency
(T;T) 2.5 a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency

This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant rs28929474(A), which is associated with an increased risk of emphysema and COPD.