Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs889957249
rs889957249
PLG
0.720 GeneticVariation BEFREE Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema. 30809376

2019
dbSNP: rs889957249
rs889957249
PLG
0.720 GeneticVariation BEFREE The results support a role of PLG K330E in the pathogenesis of HAE and suggest that genetic testing be considered as an approach to diagnose patients with unexplained angioedema. 31131012

2019
dbSNP: rs889957249
rs889957249
PLG
G 0.720 CausalMutation CLINVAR