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rs17580(T;T)

From SNPedia

a slightly reduced functionality form 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 variant represents carrying two copies of the PiS variant in alpha-1-antitrypsin deficiency with 60% enzymatic activity. No direct correlation with liver disease according to Liver Disease in Alpha 1-Antitrypsin Deficiency: A Review and no increased risk of emphysema according to [1].

This is a genotype with recommended actions. 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.