Tag

Hereditary Angioedema

5 genetic variants with this tag.

RSID	Gene	Description	Category
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Hereditary Angioedema	Established
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Hereditary Angioedema	Established
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Hereditary Angioedema	Established
rs28362944	SERPING1	5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...	Hormones & Sleep	Hereditary Angioedema	Moderate
rs4926	SERPING1 Val480Met	Missense variant in C1-inhibitor gene associated with insomnia risk through n...	Hormones & Sleep	Hereditary Angioedema	Moderate