SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Disease: Chronic Obstructive Airway Disease ×
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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 1 2015 2015
dbSNP: rs28929474
rs28929474 		0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.710 1.000 1 1985 2015
dbSNP: rs1051052
rs1051052 		1.000 0.040 14 94377595 3 prime UTR variant A/G snv 0.47
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1243160
rs1243160 		1.000 0.040 14 94388540 intron variant G/A snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1243166
rs1243166 		1.000 0.040 14 94377481 3 prime UTR variant A/G snv 0.70
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2854254
rs2854254 		1.000 0.040 14 94388536 intron variant T/C snv 0.64
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs6647
rs6647 		0.925 0.040 14 94381078 missense variant A/G snv 0.21 0.31
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs8004738
rs8004738 		0.925 0.080 14 94390577 5 prime UTR variant G/A snv 0.55
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9944155
rs9944155 		1.000 0.040 14 94377162 3 prime UTR variant C/T snv 4.3E-03
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018