Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907948
rs121907948
SERPING1
0.020 GeneticVariation BEFREE Moreover, two previously described mutations in the reactive center of C1 inh, p.R444C and p.R444H, have been detected in four unrelated patients with type II HAE. 11933207

2002
dbSNP: rs121907948
rs121907948
SERPING1
0.020 GeneticVariation BEFREE A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. 1451784

1992