Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940870
rs28940870
SERPING1
0.030 GeneticVariation BEFREE All C1-INH-HAE type II patients from three families harboured the same substitution (c.1396C>T). 26535898

2015
dbSNP: rs28940870
rs28940870
SERPING1
0.030 GeneticVariation BEFREE We found the g.16788C>T (p.Arg444Cys) mutation in each 3, type II HAE-families. 14635117

2003
dbSNP: rs28940870
rs28940870
SERPING1
0.030 GeneticVariation BEFREE Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. 2365061

1990