SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Disease: Pulmonary Emphysema ×
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: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.730 1.000 3 1985 2017
dbSNP: rs121912712
rs121912712 		1.000 0.040 14 94378547 missense variant C/T snv 2.4E-05; 3.9E-04; 4.0E-06 3.6E-04
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019