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: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. 24713750 2014
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach? 24969923 2014
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Alpha-1-antitrypsin deficiency associated with the Mattawa variant. 24183282 2013
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Rare alpha-1-antitrypsin variants: are they really so rare? 22291048 2012
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. 15744045 2005
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. 2786335 1989
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. 2788166 1989
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study. 3491442 1986
dbSNP: rs775982338
rs775982338
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
CUI: C0221757
Disease:
alpha 1-Antitrypsin Deficiency 		G 0.700 CausalMutation CLINVAR Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin. 6600898 1983