rs17580(A;T)

Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency

Is a	genotype
of	rs17580
Gene	SERPINA1
Chromosome	14
Position	94,380,925
mentioned	by

Magnitude

2.3

Repute

Bad

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(A;T)	2.3	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.