rs28929474

rs28929474 is a genetic variant located in the SERPINA1 gene. dbsnp · gene

In gnomAD, rs28929474 has an overall allele frequency of 1.2%. gnomad · frequency

In ClinVar, rs28929474 is classified as Pathogenic for Alpha-1-antitrypsin deficiency (A1ATD) (2 review stars; last evaluated 2025-02-02). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for Neurodevelopmental disorder (1 review star, germline; last evaluated 2021-12-16). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for Alpha-1-antitrypsin deficiency (A1ATD) (1 review star, germline; last evaluated 2020-08-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for COPD, severe early onset (1 review star, germline; last evaluated 2020-08-31). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2017-04-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Risk factor for Chronic obstructive pulmonary disease (1 review star, germline; last evaluated 2020-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for SERPINA1-related disorder (0 review stars, germline; last evaluated 2024-09-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for FRAXE (0 review stars, germline; last evaluated 2014-07-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Uncertain significance 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, rs28929474 is classified as other for PI Z (0 review stars, germline; last evaluated 2016-07-15). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as other for PI Z(TUN) (0 review stars, germline; last evaluated 1994-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as other for PI Z(AUGSBURG) (0 review stars, germline; last evaluated 1994-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2024-11-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Pathogenic for See cases (1 review star, germline; last evaluated 2020-10-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28929474 is classified as Uncertain significance for not specified (1 review star, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date