rs1057516212, SERPINA1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
48 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0
Chronic cough
CUI: C0010201
Disease: Chronic cough
1 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0