rs751235320, 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 0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1993 1993
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 0.700 0
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
64 0.882 0.160 14 94382591 splice donor variant C/A snv 4.0E-06 1.4E-05 0.700 0