SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: alpha 1-Antitrypsin Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Frequency of Rare Alpha-1 Antitrypsin Variants in Polish Patients with Chronic Respiratory Disorders. 26987331 2016
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. 27296815 2016
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 GeneticVariation CLINVAR Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. 24713750 2014
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. 24713750 2014
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. 22912357 2012
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 GeneticVariation CLINVAR Reference and interpretive ranges for α(1)-antitrypsin quantitation by phenotype in adult and pediatric populations. 22912357 2012
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR The prevalence of alpha-1 antitrypsin deficiency in Ireland. 21752289 2011
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 GeneticVariation CLINVAR The prevalence of alpha-1 antitrypsin deficiency in Ireland. 21752289 2011
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. 18515255 2008
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Laboratory diagnosis of alpha1-antitrypsin deficiency. 17964515 2007
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 GeneticVariation CLINVAR Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. 10194472 1999
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Heteropolymerization of S, I, and Z alpha1-antitrypsin and liver cirrhosis. 10194472 1999
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Molecular characterization of the P and I variants of alpha 1-antitrypsin. 1504305 1992
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 GeneticVariation CLINVAR Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). 2606478 1989
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). 2606478 1989
dbSNP: rs28931570
rs28931570
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		A 0.700 CausalMutation CLINVAR Study of familial alpha-1-proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ). I. Alpha-1-phenotyping and clinical investigations. 3496639 1987