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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.

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Consider getting tested for A1AT deficiency.
  • Avoid smoking (and smoke) to reduce COPD risk.
  • Be aware of liver disease potential and need for monitoring; minimize alcohol consumption.
  • Reduce exposure to dust, fumes, gases and air pollutants if possible.
  • Those positive for A1AT deficiency should inform their relatives, especially siblings whose risk of A1AT deficiency is 25%.


The full ClinGen Actionability report about A1AT deficiency can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.