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
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
0.800 GeneticVariation BEFREE The majority of AATD cases are caused by the 'Z' and 'S' variants - single-nucleotide variations (SNVs) that result in amino acid substitutions of E342K and E264V. 31307431 2019
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 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
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
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. 27296815 2016
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders. 26987331 2016
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 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
T 0.800 CausalMutation CLINVAR Quantitation of circulating wild-type alpha-1-antitrypsin in heterozygous carriers of the S and Z deficiency alleles. 26243289 2015
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland. 26672964 2015
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 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 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 Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes. 23837941 2014
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
0.800 GeneticVariation BEFREE The PiZ transgenic mouse strain expresses a human AAT (hAAT) transgene that contains the AATD-associated Glu342Lys mutation. 24355919 2014
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR Clarification of the risk of chronic obstructive pulmonary disease in α1-antitrypsin deficiency PiMZ heterozygotes. 24428606 2014
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 Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113 2013
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
0.800 GeneticVariation BEFREE The Z allele (Glu342Lys) in α1-antitrypsin (AAT) deficiency is a combined deficiency and dysfunctional allele. 23660934 2013
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population. 23632999 2013
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR A patient with the rare alpha-1-antitrypsin variant (Z)bristol in compound heterozygosity with the Z mutation. 23858502 2013
dbSNP: rs28929474
rs28929474
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency
T 0.800 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760 2013
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 Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment. 22735536 2012