Gene: SERPINA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease. 26310624

2015
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 23632999

2013
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ). 18682522

2008
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. 15115878

2004
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. 9041988

1997
dbSNP: rs28929474
rs28929474
SERPINA1
T 0.700 CausalMutation CLINVAR alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene. 6306478

1983