|
rs121912713
|
SERPINA1
|
Protein C Deficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs121912713
|
SERPINA1
|
Blood Coagulation Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs28929474
|
SERPINA1
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
rs28929474 was significantly enriched in the cholangiocarcinoma group (4.1 vs. 1.7%; OR 2.46, 95% CI 1.14-5.32; Bonferroni corrected p(c) = 0.036), reinforced by Armitage trend testing (OR 2.53; p(c) = 0.032).
|
21138453 |
2011 |
|
rs762151808
|
SERPINA1
|
Heart failure
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare S65C mutation and a novel A271S mutation were also found in this study; the latter patient had 4+ iron in the liver and later developed heart failure with cardiac iron.
|
20208481 |
2010 |
|
rs762151808
|
SERPINA1
|
Congestive heart failure
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare S65C mutation and a novel A271S mutation were also found in this study; the latter patient had 4+ iron in the liver and later developed heart failure with cardiac iron.
|
20208481 |
2010 |
|
rs28929474
|
SERPINA1
|
Liver Cirrhosis
|
|
0.050 |
GeneticVariation |
BEFREE |
According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood.
|
21617532 |
2011 |
|
rs28929474
|
SERPINA1
|
Malignant neoplasm of liver
|
|
0.010 |
GeneticVariation |
BEFREE |
According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood.
|
21617532 |
2011 |
|
rs28929474
|
SERPINA1
|
Liver and Intrahepatic Biliary Tract Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood.
|
21617532 |
2011 |
|
rs28929474
|
SERPINA1
|
Adult Liver Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood.
|
21617532 |
2011 |
|
rs141620200
|
SERPINA1
|
Polycystic Ovary Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
All 50 women with PCOS harbored the A307T polymorphic variant, 56% harbored N680S, 30% S680S and 14% N680N polymorphisms.
|
17259794 |
2006 |
|
rs28929474
|
SERPINA1
|
Lung diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease.
|
20170533 |
2010 |
|
rs17580
|
SERPINA1
|
Lung diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease.
|
20170533 |
2010 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD).
|
22621770 |
2012 |
|
rs28929474
|
SERPINA1
|
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 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
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 |
|
rs28929474
|
SERPINA1
|
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 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
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 |
|
rs28929474
|
SERPINA1
|
Liver diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high propensity to polymerize, accumulate in hepatocytes and thus to enhance a risk for hepatocyte damage and subsequent liver disease.
|
31832977 |
2020 |
|
rs28929474
|
SERPINA1
|
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 |
|
rs28929474
|
SERPINA1
|
Cholelithiasis
|
|
0.010 |
GeneticVariation |
BEFREE |
Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36.
|
30325047 |
2019 |
|
rs6647
|
SERPINA1
|
Bronchiectasis
|
|
0.010 |
GeneticVariation |
BEFREE |
For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G>A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023).
|
19747908 |
2010 |
|
rs1035193069
|
SERPINA1
|
High-oxygen-affinity hemoglobin
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis.
|
1427427 |
1992 |
|
rs1035193069
|
SERPINA1
|
Secondary polycythemia
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Kempsey (beta 99 Asp----Asn) is a high-oxygen affinity hemoglobin, never before reported in Italy, associated with secondary erythrocytosis.
|
1427427 |
1992 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we show that a combination of zinc finger nucleases (ZFNs) and piggyBac technology in human iPSCs can achieve biallelic correction of a point mutation (Glu342Lys) in the α(1)-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α(1)-antitrypsin deficiency.
|
21993621 |
2011 |
|
rs9944155
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele (OR = 0.121, 95% CI: 0.070-0.209, P < 0.001).
|
29521291 |
2018 |