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 Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases. 22971141 2012
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 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. 2989709 1985
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 		0.800 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: 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 Personalized genomic disease risk of volunteers. 24082139 2013
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment. 22735536 2012
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Increased outer arm and core fucose residues on the N-glycans of mutated alpha-1 antitrypsin protein from alpha-1 antitrypsin deficient individuals. 24328305 2014
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 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 The Z mutation alters the global structural dynamics of α1-antitrypsin. 25181470 2014
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR A study of common Mendelian disease carriers across ageing British cohorts: meta-analyses reveal heterozygosity for alpha 1-antitrypsin deficiency increases respiratory capacity and height. 26831755 2016
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis. 24518491 2014
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation. 2904702 1988
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.800 GeneticVariation BEFREE Findings were mostly negative but lung function in SERPINA1 (protease inhibitor (PI) Z allele, rs28929474) showed enhanced FEV1 and FVC (0.13 z-score increase in FEV1 (p=1.7 × 10(-5)) and 0.16 z-score increase in FVC (p=5.2 × 10(-8))) in PI-MZ individuals. 26831755 2016
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
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 		0.800 GeneticVariation BEFREE Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. 28668972 2017
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Structure and variation of human alpha 1-antitrypsin. 7045697 1982
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 deficiency: accumulation or degradation of mutant variants within the hepatic endoplasmic reticulum. 2700304 1989
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 Fibrinogen and α1-antitrypsin in COPD exacerbations. 26304913 2015
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		0.800 GeneticVariation BEFREE Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype). 31121167 2019
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		T 0.800 CausalMutation CLINVAR Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. 23837941 2014