rs56871159
|
SERPINA3
|
Serum LDL cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
rs56871159
|
SERPINA3
|
Low density lipoprotein cholesterol measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
|
23063622 |
2012 |
rs1800463
|
SERPINA3
|
ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1800463
|
SERPINA3
|
Chronic Obstructive Airway Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
In particular, this intermediate, along with the latent and polymerized conformations, explains the loss of activity of plasma alpha(1)-antichymotrypsin associated with chronic obstructive pulmonary disease in patients with the Leu-55-Pro mutation.
|
10618372 |
2000 |
rs1800463
|
SERPINA3
|
Chronic Obstructive Airway Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
Previous studies have suggested that two of these mutations (Pro227-->Ala and Leu55-->Pro) predispose to chronic obstructive pulmonary disease (COPD).
|
9553741 |
1998 |
rs1800463
|
SERPINA3
|
Chronic Obstructive Airway Disease
|
|
0.030 |
GeneticVariation |
BEFREE |
A leucine 55-to-proline substitution causing a defective ACT allele (Bochum-1) was observed in a family with COPD in three subsequent generations.
|
8244391 |
1993 |
rs768388223
|
SERPINA3
|
Squamous cell carcinoma of the head and neck
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation.
|
26918827 |
2017 |
rs4934
|
SERPINA3
|
Intracranial Aneurysm
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs4934 polymorphism of SERPINA3 is not associated with sporadic intracranial aneurysms among individuals of Chinese Han ethnicity.
|
19907165 |
2010 |
rs573366685
|
SERPINA3
|
Intracranial Aneurysm
|
|
0.010 |
GeneticVariation |
BEFREE |
The eNOS gene T786C polymorphism (OR 1.24, 95% CI 1.0-1.54; p = 0.05) and IL-6 gene G572C polymorphism (OR 7.08, 95% CI 2.85-17.57; p < 0.0001) both showed a significant association with ruptured/unruptured IA.
|
19780647 |
2010 |
rs886905373
|
SERPINA3
|
Subarachnoid Hemorrhage
|
|
0.010 |
GeneticVariation |
BEFREE |
In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.
|
16968986 |
2007 |
rs886905373
|
SERPINA3
|
Intracranial Aneurysm
|
|
0.010 |
GeneticVariation |
BEFREE |
In the patients with intracranial aneurysms the SERPINA3 A15T allele and genotype distribution did not differ significantly from the controls.
|
16968986 |
2007 |
rs754246590
|
SERPINA3
|
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 |
rs4934
|
SERPINA3
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
As for 25A>G, lain only the heterozygous genotype A/G associates with AD (p=0.0220, chi(2)), but not the A allele frequency (p=0.1141, chi(2)).
|
10980547 |
2000 |
rs538662666
|
SERPINA3
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistic test showed that both genotype (p=0.0378, Fisher's exact, two tailed) and allele frequency (p=0.0382, Fisher's exact, two tailed) of 39G>A are different between AD patients and the controls.
|
10980547 |
2000 |
rs886905373
|
SERPINA3
|
Lung Diseases, Obstructive
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that alpha 1-antitrypsin Taq I polymorphism and alpha 1-antichymotrypsin Thr-15Ala mutation are not major genetic risk factors for the development of obstructive lung disease in Italian patients.
|
10542979 |
1999 |