Tag

Complement System

22 genetic variants with this tag.

RSID	Gene	Description	Category
rs10033900	CFI	Intronic variant in complement factor I associated with age-related macular d...	Longevity & Aging	Complement System	Strong
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Established
rs10818488	TRAF1 TRAF1-C5 rheumatoid arthritis variant	Intergenic regulatory variant between TRAF1 and C5 on chromosome 9; the A all...	TNF, NF-kB & Inflammatory Cytokines	Complement System	Strong
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Complement System	Established
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Established
rs1270942	CFB	Intronic variant in Complement Factor B associated with strongly elevated sys...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs1800450	MBL2 Gly54Asp (variant B)	Missense variant disrupting mannose-binding lectin oligomerization, reducing ...	Innate Immunity & Infection Defense	Complement System	Strong
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Established
rs2230199	C3 R102G	Missense variant in complement C3 increasing risk of age-related macular dege...	Skin & Eyes	Complement System	Established
rs4151667	CFB L9H	Missense variant in the signal peptide of complement factor B forming the H10...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs1831281	CFH	Intronic CFH variant that tags the complement-risk haplotype; the C allele (c...	Vascular Inflammation & Remodeling	Complement System	Moderate
rs1831282	CFH	Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C all...	Vascular Inflammation & Remodeling	Complement System	Strong
rs547154	C2 IVS10	Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs641153	CFB R32Q	Protective missense variant in complement factor B that reduces alternative p...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs2274700	CFH A473A	Synonymous CFH variant in complete LD with rs1410996 that tags the complement...	Longevity & Aging	Complement System	Strong
rs7951	C3	Synonymous C3 variant associated with reduced serum complement C3 levels and ...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Moderate
rs9332736	C2 28bp deletion (type I C2 deficiency)	Frameshift deletion in C2 exon 6 causing complete complement C2 deficiency, i...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs9332739	C2 E318D	Missense variant in complement component C2 forming a protective haplotype wi...	B-Cell Immunity & Antibody-Mediated Disease	Complement System	Strong
rs28362944	SERPING1	5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...	Hormones & Sleep	Complement System	Moderate
rs551397	CFH	Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co...	Longevity & Aging	Complement System	Moderate
rs4926	SERPING1 Val480Met	Missense variant in C1-inhibitor gene associated with insomnia risk through n...	Hormones & Sleep	Complement System	Moderate
rs6656401	CR1 CR1 complement receptor Alzheimer's variant	Intronic variant in the complement receptor 1 gene; the minor A allele impair...	Neurology & Cognition	Complement System	Strong