Variant: rs121912714 

    present in Gene: SERPINA1
    present in Chromosome: 14
    Position on Chromosome: 94380949
    Alleles of this Variant: T/A

rs121912714 in SERPINA1 gene and Abnormality of the liver PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

rs121912714 in SERPINA1 gene and Chronic Obstructive Airway Disease PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

rs121912714 in SERPINA1 gene and Pulmonary Emphysema PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

rs121912714 in SERPINA1 gene and alpha 1-Antitrypsin Deficiency PMID 15744045 2005 Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.

PMID 14767073 2004 Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants.

PMID 17906067 2007 "Genotypes and serum concentrations of human alpha-1-antitrypsin ""P"" protein variants in a clinical population."

PMID 21474916 2011 Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area.

PMID 15949707 2005 Comparison of the properties of rare variants of alpha1-proteinase inhibitor expressed in COS-1 cells and assessment of their potential as risk factors in human disease.

PMID 2787118 1989 The deficient alpha-I-antitrypsin phenotype PI P is associated with an A-to-T transversion in exon III of the gene.

PMID 2240842 1990 Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles.