|
rs17580
|
|
|
0.750 |
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 |
|
rs17580
|
|
|
0.750 |
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 |
|
rs17580
|
|
|
0.750 |
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 |
|
rs17580
|
|
A |
0.750 |
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 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
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 |
|
rs17580
|
|
|
0.750 |
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 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
PiSZ alpha-1 antitrypsin deficiency (AATD): pulmonary phenotype and prognosis relative to PiZZ AATD and PiMM COPD.
|
26141072 |
2015 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Prevalence of PI*Z and PI*S alleles of alpha-1-antitrypsin deficiency in Finland.
|
26672964 |
2015 |
|
rs17580
|
|
A |
0.750 |
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 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population.
|
23632999 |
2013 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
|
24055113 |
2013 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
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.
|
22933512 |
2012 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Serum levels and genotype distribution of α1-antitrypsin in the general population.
|
22426792 |
2012 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
A map of human genome variation from population-scale sequencing.
|
20981092 |
2010 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Alpha1-antitrypsin deficiency.
|
15978931 |
2005 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group.
|
8970361 |
1996 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes.
|
1889260 |
1991 |
|
rs17580
|
|
A |
0.750 |
CausalMutation |
CLINVAR |
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.
|
2567291 |
1989 |
|
rs17580
|
|
|
0.750 |
GeneticVariation |
BEFREE |
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.
|
2567291 |
1989 |