Tag

Complement

6 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	Complement	Established
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Complement	Established
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Innate Immunity & Infection Defense	Complement	Strong
rs419788	SKIV2L	Intronic SKIV2L variant in the MHC class III region; the T allele tags an ind...	Interferon Signaling & Systemic Autoimmune	Complement	Moderate
rs28362944	SERPING1	5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...	Hormones & Sleep	Complement	Moderate
rs4926	SERPING1 Val480Met	Missense variant in C1-inhibitor gene associated with insomnia risk through n...	Hormones & Sleep	Complement	Moderate