SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Disease: Lung diseases ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17580
rs17580
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease:
Lung diseases 		0.020 GeneticVariation BEFREE Increased risk of liver and lung disease has also been reported in heterozygous subjects who carry Z in association with the milder S allele (Glu264Val) or even with wild-type M. However, it is unknown whether Z AAT can co-polymerize with other AAT variants in vivo. 29538751 2018
dbSNP: rs17580
rs17580
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024115
Disease:
Lung diseases 		0.020 GeneticVariation BEFREE Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease. 20170533 2010