Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929474
rs28929474
SERPINA1
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 GeneticVariation BEFREE Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high propensity to polymerize, accumulate in hepatocytes and thus to enhance a risk for hepatocyte damage and subsequent liver disease. 31832977

2020
dbSNP: rs28929474
rs28929474
SERPINA1
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 GeneticVariation BEFREE The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed. 30739910

2019