Target | cis/trans | Study | SNP | SNP location | Maj/min allele | MAF | N | βinv | seinv | Pinv | fclog | Plog | Praw |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Factor B | cis | Discovery | rs550513 | 6:31,920,687 | C/T | 0.08 | 996 | 0.702 | 0.076 | 1.3×10-19 | 1.100 | 4.4×10-19 | 3.4×10-20 |
Factor B | cis | Replication | rs541862 | 6:31,916,951 | A/G | 0.12 | 337 | 0.612 | 0.107 | 2.1×10-8 | 1.110 | 3.8×10-8 | 2.4×10-8 |
Target (abbrv.) | Factor B |
Target (full name) | Complement factor B |
Somalogic ID (Sequence ID) | SL000414 (4129-72_1) |
Entrez Gene Symbol | CFB |
UniProt ID | P00751 |
UniProt Comment |
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Reactome |
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Pathway Studio |
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All locus annotations are based on the sentinel SNP (rs550513) and 18 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)
Genes hit or close-by | |
Potentially regulated genes | |
eQTL genes |
Trait | P | Study | Source |
---|---|---|---|
Advanced age-related macular degeneration | 9.5×10-45 | 23455636 (PMID) | GRASP2 nonQTL |
Rheumatoid arthritis | 6×10-41 | 20453842 (PMID) | GRASP2 nonQTL |
Advanced age-related macular degeneration (choroidal neovascularization) vs. no AMD | 1.4×10-32 | 23455636 (PMID) | GRASP2 nonQTL |
Gene expression of SKIV2L///DOM3Z in blood | 3×10-29 | 21829388 (PMID) | GRASP2 eQTL |
Macular degeneration | 2.9×10-19 | pha002869 (dbGaP) | dbGaP via SNiPA |
Age-related macular degeneration | 8.8×10-17 | 22694956 (PMID) | GRASP2 nonQTL |
Advanced age-related macular degeneration (geographic atrophy) | 1.5×10-15 | 23455636 (PMID) | GRASP2 nonQTL |
Gene expression of RDBP in peripheral blood monocytes | 2.5×10-15 | 20502693 (PMID) | GRASP2 eQTL |
Rheumatoid arthritis (ACPA-positive) | 7.4×10-14 | 21156761 (PMID) | GRASP2 nonQTL |
Gene expression of SKIV2L in peripheral blood monocytes | 1.2×10-12 | 20502693 (PMID) | GRASP2 eQTL |
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