|
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 |
|
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 |
|
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 |
|
rs11558261
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.710 |
GeneticVariation |
BEFREE |
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
|
2227940 |
1990 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
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 |
|
rs1460874866
|
SERPINA1
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
The nucleotide substitutions in exon 4 in the patient with type 1 diabetes and that with fibrocalculous pancreatopathy occurred at codons 103 and 84 while that in exon 5 in the patient with type 1 diabetes occurred at codon 141, changing the codons from CAT to CAC, GTG to GCG, and ACT to AAT and resulting in H103H silent, V84A and T141N missense mutations, respectively.
|
11796176 |
2002 |
|
rs1303
|
SERPINA1
|
Pancreatitis, Chronic
|
|
0.010 |
GeneticVariation |
BEFREE |
The prevalence of PiM variants was higher in patients with early onset CP than in late onset (P < 0.05 for E376D).
|
11916201 |
2002 |
|
rs1303
|
SERPINA1
|
pancreatitis idiopathic
|
|
0.010 |
GeneticVariation |
BEFREE |
The lowest prevalences of V213A and E376D were found in PRSS1 patients, whereas an increased rate of these mutations was present in the SPINK1 group, and the highest prevalence was found in patients with idiopathic pancreatitis.
|
11916201 |
2002 |
|
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 |
|
rs709932
|
SERPINA1
|
Corneal dystrophy
|
|
0.010 |
GeneticVariation |
BEFREE |
The clinical manifestations of the two cases with both R124H and N544S mutations appeared to be a summation of Avellino and lattice corneal dystrophies.
|
19461933 |
2009 |
|
rs709932
|
SERPINA1
|
Familial Amyloid Polyneuropathy, Type V
|
|
0.010 |
GeneticVariation |
BEFREE |
The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy.
|
19461933 |
2009 |
|
rs709932
|
SERPINA1
|
Avellino corneal dystrophy
|
|
0.010 |
GeneticVariation |
BEFREE |
The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy.
|
19461933 |
2009 |
|
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 |
|
rs6647
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers.
|
19747908 |
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
|
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 |
|
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
|
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 |
|
rs8004738
|
SERPINA1
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the 'common' Z and S alleles as well as the promoter variant rs8004738 for association with cholangiocarcinoma.
|
21138453 |
2011 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The Z mutation (Glu342Lys) accounts for the majority of cases of severe α(1)-antitrypsin deficiency.
|
21426261 |
2011 |
|
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 |