rs28929474(T;T)

Alpha-1 Antitrypsin Deficiency

Magnitude
5.5Very important
Repute
Bad
On SNPedia
rs28929474(A;A)Minus strand
Gene
SERPINA1

Other genotypes of rs28929474

  1. C;TBadCarrier for Alpha-1 Antitrypsin DeficiencyImportant · 3.0
  2. C;CGoodcommon in complete genomicsTypical · 0.0

All about rs28929474

Notes

From SNPedia

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.

Source and license

Adapted from rs28929474(A;A) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.