SERPINA1, serpin family A member 1, 5265

N. diseases: 411; N. variants: 19
Disease: Chronic Obstructive Airway Disease ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17580
rs17580
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.710 GeneticVariation BEFREE The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD. 25454901 2015
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.710 GeneticVariation BEFREE The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD. 25454901 2015
dbSNP: rs1051052
rs1051052
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE rs1243166, rs9944155, and rs1051052</span> sites of Alpha-1-AT may be associated with the COPD morbidity in Uygur population. 29521291 2018
dbSNP: rs1243166
rs1243166
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE While rs1243166-G allele and rs1051052-G allele are associated with an increased risk of developing COPD, rs9944155-G allele is a protect locus in Uygur population. 29521291 2018
dbSNP: rs9944155
rs9944155
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele (OR = 0.121, 95% CI: 0.070-0.209, P < 0.001). 29521291 2018
dbSNP: rs1243160
rs1243160
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE SNP rs8004738 genotype was associated with a significantly higher risk for COPD (odds ratio (OR) =1.835, 95% confidence interval (CI): 1.002-3.360), whereas SNPs rs1243160 and rs2854254 did not exhibit such an association. 28138235 2017
dbSNP: rs2854254
rs2854254
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE SNP rs8004738 genotype was associated with a significantly higher risk for COPD (odds ratio (OR) =1.835, 95% confidence interval (CI): 1.002-3.360), whereas SNPs rs1243160 and rs2854254 did not exhibit such an association. 28138235 2017
dbSNP: rs8004738
rs8004738
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE SNP rs8004738 of <i>SERPINA1</i> gene significantly interacted with smoking status and was associated with a higher risk for COPD in the Chinese population. 28138235 2017
dbSNP: rs6647
rs6647
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease 		0.010 GeneticVariation BEFREE The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers. 19747908 2010