Variant: rs17580 

    present in Gene: SERPINA1
    present in Chromosome: 14
    Position on Chromosome: 94380925
    Alleles of this Variant: T/A

rs17580 in SERPINA1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs17580 in SERPINA1 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs17580 in SERPINA1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17580 in SERPINA1 gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs17580 in SERPINA1 gene and alpha 1-Antitrypsin Deficiency PMID 8970361 1996 Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.

PMID 25454901 2015 The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD.

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

PMID 2567291 1989 Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.

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

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

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

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 26141072 2015 PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD.

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

PMID 15978931 2005 Alpha1-antitrypsin deficiency.