Research
Tag

Complement System

13 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 Strong
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 Strong
rs1061170 CFH Y402H Strongly increases risk of age-related macular degeneration through impaired ... Skin & Eyes Established
rs1270942 CFB Intronic variant in Complement Factor B associated with strongly elevated sys... B-Cell Immunity & Antibody-Mediated Disease Strong
rs1800450 MBL2 Gly54Asp (variant B) Missense variant disrupting mannose-binding lectin oligomerization, reducing ... Innate Immunity & Infection Defense Strong
rs1831281 CFH Intronic CFH variant that tags the complement-risk haplotype; the C allele (c... Vascular Inflammation & Remodeling Moderate
rs547154 C2 IVS10 Intronic C2 variant forming the H7 protective haplotype with CFB R32Q, reduci... B-Cell Immunity & Antibody-Mediated Disease Strong
rs641153 CFB R32Q Protective missense variant in complement factor B that reduces alternative p... B-Cell Immunity & Antibody-Mediated Disease Strong
rs2274700 CFH A473A Synonymous CFH variant in complete LD with rs1410996 that tags the complement... Longevity & Aging Strong
rs7951 C3 Synonymous C3 variant associated with reduced serum complement C3 levels and ... B-Cell Immunity & Antibody-Mediated Disease Moderate
rs28362944 SERPING1 5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re... Hormones & Sleep Moderate
rs551397 CFH Intronic CFH variant that tags the AMD-risk haplotype; the C allele tracks co... Longevity & Aging Moderate
rs6656401 CR1 CR1 complement receptor Alzheimer's variant Intronic variant in the complement receptor 1 gene; the minor A allele increa... Neurology & Cognition Strong