Welcome to the Alpha-1 Alleles Website

Our Purpose:

Alpha-1 Alleles is a website that provides information for patients, healthcare professionals, and the general public about specific variants in the Alpha-1 antitrypsin deficiency
(Alpha-1, AATD, SERPINA1 ) gene. For each variant or variant combination included in our database, the website will provide known information about:

  • Whether the variant or variant combination contributes to Alpha-1 antitrypsin deficiency
  • The biological mechanism and effect on AAT level
  • Association with lung disease
  • Association with liver disease
  • Healthcare provider information and literature references
Information on the Alpha-1 Alleles website is being updated as further data becomes available.

What this site is intended to do:

This website provides information for members of the general public, including Alpha-1 patients and their family members, about what is currently known about specific genetic variants related to Alpha-1. Patients and their family members are encouraged to review our FAQs page, and learn more about Alpha-1 at the Alpha-1 Foundation website . This website also provides more in-depth research-related information for health care professionals and researchers.  

What this site is NOT intended to do:

This website is not intended to help diagnose anyone with Alpha-1.
The information contained on this website should not be used to predict the clinical course of individual patients. 
This website is not intended to provide medical advice to individual patients. 
This website is not intended to provide information about conditions other than lung and liver disease that may be associated with Alpha-1.

Note: If you have questions about any of the information contained in this website, please consult your doctor.

Site Usage Agreement

Before you may search the database, you must read and agree to the following statements:

  • This website uses cookies to remember your agreement on this device.
  • The information contained in this website is for educational purposes only.
  • An interpretation of a particular variant’s chance of causing Alpha-1 antitrypsin deficiency is challenging and may be different for different individuals.
  • We encourage you to discuss the information contained in this website with your doctor or genetic counselor before making any medical or reproductive decisions.

I understand and agree to these conditions.