rs17580
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
- Alpha-1-antitrypsin deficiency (A1ATD)Pathogenic · ★★ · germline
- Inborn genetic diseasesPathogenic · ★ · germline
- Chronic obstructive pulmonary diseasePathogenic · ★ · unknown
- Alpha-1-antitrypsin deficiency (A1ATD)Pathogenic · ★ · unknown
- SERPINA1-related disorderPathogenic · germline
- Cystic fibrosis (CF)Risk factor · germline
- Susceptibility to severe coronavirus disease (COVID-19)other · germline
- PI Sother · germline
- not providedPathogenic · ★★ · germline
- not specifiedno classifications from unflagged record · germline
gnomAD allele frequency 2.38e-2
rs17580 is a genetic variant located in the SERPINA1 gene. dbsnp · gene
In gnomAD, rs17580 has an overall allele frequency of 2.4%. gnomad · frequency
In ClinVar, rs17580 is classified as Pathogenic (low penetrance) for Alpha-1-antitrypsin deficiency (A1ATD) (2 review stars, germline; last evaluated 2025-02-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2023-10-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as Pathogenic for Chronic obstructive pulmonary disease (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs17580 is classified as Pathogenic for Alpha-1-antitrypsin deficiency (A1ATD) (1 review star; last evaluated 2018-10-31). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs17580 is classified as Pathogenic for SERPINA1-related disorder (0 review stars, germline; last evaluated 2024-08-21). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as Risk factor for Cystic fibrosis (CF) (0 review stars, germline; last evaluated 2019-04-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as other for Susceptibility to severe coronavirus disease (COVID-19) (0 review stars, germline; last evaluated 2022-05-13). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as other for PI S (0 review stars, germline; last evaluated 1989-06-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-01-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs17580 is classified as no classifications from unflagged record for not specified (0 review stars, germline; last evaluated 2022-11-17). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts 4b757caf644e95c8 · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0
Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.