rs764325655, SERPINA1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 GeneticVariation CLINVAR Identification of compound heterozygous mutation in a Korean patient with alpha 1-antitrypsin deficiency. 22016686 2011
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 GeneticVariation CLINVAR Compound heterozygosity for alpha-1-antitrypsin (S(iiyama) and QO(clayton)) in an Oriental patient. 11334395 2001
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 GeneticVariation CLINVAR alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]. 9070606 1997
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 CausalMutation CLINVAR alpha1-antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant [corrected; erratum to be published]. 9070606 1997
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 GeneticVariation CLINVAR Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. 7977369 1994
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 CausalMutation CLINVAR Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. 7977369 1994
alpha 1-Antitrypsin Deficiency
CUI: C0221757
Disease: alpha 1-Antitrypsin Deficiency
0.700 CausalMutation CLINVAR
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
0.700 CausalMutation CLINVAR
Pulmonary Emphysema
CUI: C0034067
Disease: Pulmonary Emphysema
0.700 CausalMutation CLINVAR