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 | Strong | |
| rs1064793792 | SERPING1 | Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he... | B-Cell Immunity & Antibody-Mediated Disease | 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 | Strong | |
| rs1061170 | CFH Y402H | Strongly increases risk of age-related macular degeneration through impaired ... | Skin & Eyes | Established | |
| rs1064793917 | SERPING1 | Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti... | B-Cell Immunity & Antibody-Mediated Disease | 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 | |
| rs201363394 | SERPING1 Arg400Cys | Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ... | B-Cell Immunity & Antibody-Mediated Disease | Established | |
| rs2230199 | C3 R102G | Missense variant in complement C3 increasing risk of age-related macular dege... | Skin & Eyes | Established | |
| rs4151667 | CFB L9H | Missense variant in the signal peptide of complement factor B forming the H10... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| rs1831281 | CFH | Intronic CFH variant that tags the complement-risk haplotype; the C allele (c... | Vascular Inflammation & Remodeling | Moderate | |
| rs1831282 | CFH | Intronic CFH variant at chromosome 1q31.3 associated with AMD risk; the C all... | Vascular Inflammation & Remodeling | Strong | |
| 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 | |
| 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 | Strong | |
| rs9332739 | C2 E318D | Missense variant in complement component C2 forming a protective haplotype wi... | B-Cell Immunity & Antibody-Mediated Disease | Strong | |
| 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 | |
| rs4926 | SERPING1 Val480Met | Missense variant in C1-inhibitor gene associated with insomnia risk through n... | Hormones & Sleep | Moderate | |
| rs6656401 | CR1 CR1 complement receptor Alzheimer's variant | Intronic variant in the complement receptor 1 gene; the minor A allele impair... | Neurology & Cognition | Strong |