SERPINA3, serpin family A member 3, 12

N. diseases: 229; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56871159
rs56871159
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0428474
Disease:
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs56871159
rs56871159
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1800463
rs1800463
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C4015793
Disease:
ANTICHYMOTRYPSIN BOCHUM 1 PHENOTYPE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1800463
rs1800463
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0024117
Disease:
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
dbSNP: rs1800463
rs1800463
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0024117
Disease:
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
dbSNP: rs1800463
rs1800463
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0024117
Disease:
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
dbSNP: rs768388223
rs768388223
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C1168401
Disease:
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
dbSNP: rs4934
rs4934
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0007766
Disease:
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
dbSNP: rs573366685
rs573366685
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0007766
Disease:
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
dbSNP: rs886905373
rs886905373
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0038525
Disease:
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
dbSNP: rs886905373
rs886905373
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0007766
Disease:
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
dbSNP: rs754246590
rs754246590
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0011854
Disease:
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
dbSNP: rs4934
rs4934
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0002395
Disease:
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
dbSNP: rs538662666
rs538662666
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0002395
Disease:
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
dbSNP: rs886905373
rs886905373
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
CUI: C0600260
Disease:
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