SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Serum levels and genotype distribution of α1-antitrypsin in the general population. 22426792 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR A review of α1-antitrypsin deficiency. 21960536 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort. 22912729 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Prevalence of α1-antitrypsin deficiency alleles PI*S and PI*Z worldwide and effective screening for each of the five phenotypic classes PI*MS, PI*MZ, PI*SS, PI*SZ, and PI*ZZ: a comprehensive review. 22933512 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.800 GeneticVariation BEFREE An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD). 22621770 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.800 GeneticVariation BEFREE Here we show that a combination of zinc finger nucleases (ZFNs) and piggyBac technology in human iPSCs can achieve biallelic correction of a point mutation (Glu342Lys) in the α(1)-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α(1)-antitrypsin deficiency. 21993621 2011
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.800 GeneticVariation BEFREE The Z mutation (Glu342Lys) accounts for the majority of cases of severe α(1)-antitrypsin deficiency. 21426261 2011
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD). 21637600 2010
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases. 21067581 2010
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR A map of human genome variation from population-scale sequencing. 20981092 2010
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency. 19444872 2009
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study. 19083091 2009
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Genetic modifiers of liver disease in cystic fibrosis. 19738092 2009
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. 18515255 2008
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis. 18340647 2008
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Alpha1-antitrypsin deficiency. 15978931 2005
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis. 15454649 2004
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. 14522813 2003
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema. 12034572 2002
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema. 9569237 1998
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Review: alpha 1-antitrypsin deficiency associated liver disease. 9195389 1997
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR The mechanism of Z alpha 1-antitrypsin accumulation in the liver. 1608473 1992
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. 1889260 1991
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg. 2339709 1990