rs121912713, SERPINA1

N. diseases: 5
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 0.851 0.200 14 94378561 missense variant A/C snv 0.700 1.000 1 2004 2004
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.851 0.200 14 94378561 missense variant A/C snv 0.700 0
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
64 0.851 0.200 14 94378561 missense variant A/C snv 0.700 0
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.851 0.200 14 94378561 missense variant A/C snv 0.010 1.000 1 1992 1992
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
14 0.851 0.200 14 94378561 missense variant A/C snv 0.010 1.000 1 1992 1992