Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912713
rs121912713
SERPINA1
0.851 0.200 14 94378561 missense variant A/C snv
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
alpha 1-Antitrypsin Deficiency 		0.700 1.000 1 2004 2004
dbSNP: rs121912713
rs121912713
SERPINA1
0.851 0.200 14 94378561 missense variant A/C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.700 0
dbSNP: rs121912713
rs121912713
SERPINA1
0.851 0.200 14 94378561 missense variant A/C snv
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.700 0
dbSNP: rs121912713
rs121912713
SERPINA1
0.851 0.200 14 94378561 missense variant A/C snv
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 1992 1992
dbSNP: rs121912713
rs121912713
SERPINA1
0.851 0.200 14 94378561 missense variant A/C snv
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		0.010 1.000 1 1992 1992