SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Source: BEFREE ×
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: rs17580
rs17580
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0024115
Disease: Lung diseases
Lung diseases
Respiratory Tract Diseases 0.020 1.000 2 2010 2018
dbSNP: rs28929474
rs28929474
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0024115
Disease: Lung diseases
Lung diseases
Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs761711628
rs761711628
14 94379496 missense variant C/A;T snv 1.4E-04 2.1E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases
Respiratory Tract Diseases 0.010 1.000 1 2014 2014