SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28929474
rs28929474
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.050 1.000 5 2011 2019
dbSNP: rs17580
rs17580
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.020 1.000 2 2019 2019