Variant: rs28929474 

    present in Gene: SERPINA1
    present in Chromosome: 14
    Position on Chromosome: 94378610
    Alleles of this Variant: C/G;T

rs28929474 in SERPINA1 gene and Abnormality of the liver PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

rs28929474 in SERPINA1 gene and Alanine aminotransferase measurement PMID 28887542 2017 Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations.

rs28929474 in SERPINA1 gene and Amino acids measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs28929474 in SERPINA1 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs28929474 in SERPINA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs28929474 in SERPINA1 gene and Body Height PMID 29782485 2018 Evaluation and application of summary statistic imputation to discover new height-associated loci.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs28929474 in SERPINA1 gene and Breast size PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs28929474 in SERPINA1 gene and Chronic Obstructive Airway Disease PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

rs28929474 in SERPINA1 gene and Forced expiratory volume function PMID 30068317 2018 Genome-wide association study of lung function and clinical implication in heavy smokers.

PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs28929474 in SERPINA1 gene and Glucagon measurement PMID 29093273 2017 Genetic determinants of circulating GIP and GLP-1 concentrations.

rs28929474 in SERPINA1 gene and Glucose tolerance test PMID 29093273 2017 Genetic determinants of circulating GIP and GLP-1 concentrations.

rs28929474 in SERPINA1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs28929474 in SERPINA1 gene and Low density lipoprotein cholesterol measurement PMID 29083408 2017 Exome-wide association study of plasma lipids in >300,000 individuals.

rs28929474 in SERPINA1 gene and Movement Disorders PMID 26310624 2015 Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

PMID 9041988 1997 Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group.

PMID 15115878 2004 Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history.

PMID 6306478 1983 alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

PMID 18682522 2008 Clinical course and prognosis of never-smokers with severe alpha-1-antitrypsin deficiency (PiZZ).

PMID 23632999 2013 α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.

rs28929474 in SERPINA1 gene and Protein measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs28929474 in SERPINA1 gene and Pulmonary Emphysema PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

rs28929474 in SERPINA1 gene and Serum Alanine Aminotransferase Measurement PMID 28887542 2017 Genome-wide analysis of health-related biomarkers in the UK Household Longitudinal Study reveals novel associations.

rs28929474 in SERPINA1 gene and Smoking PMID 30068317 2018 Genome-wide association study of lung function and clinical implication in heavy smokers.

rs28929474 in SERPINA1 gene and Smoking Behaviors PMID 30068317 2018 Genome-wide association study of lung function and clinical implication in heavy smokers.

rs28929474 in SERPINA1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs28929474 in SERPINA1 gene and alpha 1-Antitrypsin Deficiency PMID 19444872 2009 Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency.

PMID 22971141 2012 Alpha-1-antitrypsin deficiency in Serbian adults with lung diseases.

PMID 9195389 1997 Review: alpha 1-antitrypsin deficiency associated liver disease.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 21067581 2010 Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.

PMID 6306478 1983 alpha 1-antitrypsin deficiency detection by direct analysis of the mutation in the gene.

PMID 15454649 2004 Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.

PMID 3264419 1988 Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model.

PMID 19738092 2009 Genetic modifiers of liver disease in cystic fibrosis.

PMID 3500183 1987 Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase.

PMID 7045697 1982 Structure and variation of human alpha 1-antitrypsin.

PMID 1608473 1992 The mechanism of Z alpha 1-antitrypsin accumulation in the liver.

PMID 3484754 1986 "Evaluation of ""at risk"" alpha 1-antitrypsin genotype SZ with synthetic oligonucleotide gene probes."

PMID 22912729 2012 SERPINA1 PiZ and PiS heterozygotes and lung function decline in the SAPALDIA cohort.

PMID 22426792 2012 Serum levels and genotype distribution of α1-antitrypsin in the general population.

PMID 2700304 1989 Alpha-1-antitrypsin deficiency: accumulation or degradation of mutant variants within the hepatic endoplasmic reticulum.

PMID 22735536 2012 Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment.

PMID 24055113 2013 Actionable, pathogenic incidental findings in 1,000 participants' exomes.

PMID 26672964 2015 Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland.

PMID 26987331 2016 Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders.

PMID 24428606 2014 Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes.

PMID 22933512 2012 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.

PMID 23858502 2013 A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation.

PMID 9569237 1998 Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema.

PMID 2904702 1988 Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation.

PMID 26831755 2016 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.

PMID 23632999 2013 α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.

PMID 24518491 2014 Pi*Z heterozygous alpha-1 antitrypsin states accelerate parenchymal but not biliary cirrhosis.

PMID 20981092 2010 A map of human genome variation from population-scale sequencing.

PMID 18515255 2008 SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations.

PMID 2989709 1985 DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z.

PMID 25181470 2014 The Z mutation alters the global structural dynamics of α1-antitrypsin.

PMID 23837941 2014 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

PMID 12034572 2002 Polymers of alpha(1)-antitrypsin are chemotactic for human neutrophils: a new paradigm for the pathogenesis of emphysema.

PMID 15978931 2005 Alpha1-antitrypsin deficiency.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 14522813 2003 American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency.

PMID 2339709 1990 Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.

PMID 26304913 2015 Fibrinogen and α1-antitrypsin in COPD exacerbations.

PMID 19083091 2009 Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study.

PMID 21637600 2010 Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD).

PMID 26243289 2015 Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles.

PMID 1889260 1991 Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes.

PMID 24328305 2014 Increased outer arm and core fucose residues on the N-glycans of mutated alpha-1 antitrypsin protein from alpha-1 antitrypsin deficient individuals.

PMID 18340647 2008 Population-based case-control study of alpha 1-antitrypsin and SLC11A1 in Crohn's disease and ulcerative colitis.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 21960536 2012 A review of α1-antitrypsin deficiency.

rs28929474 in SERPINA1 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.