SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Pulmonary Emphysema ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912714
rs121912714
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0034067
Disease:
Pulmonary Emphysema 		A 0.700 CausalMutation CLINVAR The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene. 2787118 1989