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rs28929474(A;A)

From SNPedia

Alpha-1 Antitrypsin Deficiency
Is agenotype
ofrs28929474
GeneSERPINA1
Chromosome14
Position94,378,610
mentionedby
Magnitude5.5
ReputeBad
Geno Mag Summary
(A;A) 5.5 Alpha-1 Antitrypsin Deficiency
(A;G) 3 carrier for Alpha-1 Antitrypsin Deficiency
(G;G) 0 common in complete genomics

This genotype indicates two copies of the PiZ allele, leading to alpha-1 antitrypsin deficiency and it's clinical consequences. The consequences include high risk for emphysema (80-100% risk according to ClinGen), liver cirrhosis (15-19% risk) and chronic obstructive pulmonary disease, especially in smokers.

ClinGen has issued an Actionability recommendation for carriers of PiS and PiZ alleles which can be found here.