MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Systolic blood pressure automated reading | -0.0346 | 0.00614 | 1.73e-08 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | -0.0255 | 0.00614 | 3.39e-05 | Wald ratio | 1 | cis | NA |
| Forearm bone mineral density | -0.155 | 0.0399 | 1.04e-04 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | -0.0697 | 0.0217 | 0.00129 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.0151 | 0.00492 | 0.00214 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.0261 | 0.00932 | 0.00505 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | -0.0741 | 0.0266 | 0.0053 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis | -0.323 | 0.123 | 0.0089 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.0637 | 0.0245 | 0.00928 | Wald ratio | 1 | cis | NA |
| Body fat | 0.0287 | 0.0113 | 0.0113 | Wald ratio | 1 | cis | NA |
| Neuroblastoma | -0.278 | 0.11 | 0.0118 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | 0.0554 | 0.0234 | 0.0179 | Wald ratio | 1 | cis | NA |
| …and 116 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
30 association rows across 21 traits (29 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait | best p | lead SNP | n assoc | study | MR status |
|---|---|---|---|---|---|
| Platelet-derived growth factor receptor alpha levels | 4e-385 | rs79801780 | 1 | GCST90248912 | no MR -> candidate analysis |
| F13B protein levels | 1e-232 | rs17549360 | 3 | GCST90469167 | no MR -> candidate analysis |
| Coagulation factor XIII B chain levels | 7e-226 | rs2298882 | 2 | GCST90247105 | no MR -> candidate analysis |
| Complement factor H-related protein 5 levels | 2e-146 | rs79801780 | 3 | GCST90246996 | no MR -> candidate analysis |
| CFHR2 protein levels | 6e-87 | rs74987187 | 4 | GCST90468726 | no MR -> candidate analysis |
| Coagulation factor XIII levels | 3e-18 | rs17514281 | 2 | GCST90247104 | no MR -> candidate analysis |
| CFHR1 protein levels | 3e-18 | rs2990510 | 1 | GCST90453265 | no MR -> candidate analysis |
| CFHR4 protein levels | 4e-18 | rs527964868 | 1 | GCST90468727 | no MR -> candidate analysis |
| Protein quantitative trait loci | 1e-17 | rs1412633 | 1 | GCST010901 | no MR -> candidate analysis |
| Complement factor H-related protein 2 levels | 1e-15 | rs10801586 | 1 | GCST90026530 | no MR -> candidate analysis |
| Complement factor H-related protein 5 level in Chronic kidne | 3e-15 | rs148777801 | 1 | GCST90237465 | no MR -> candidate analysis |
| Complement factor H-related protein 1 levels | 2e-14 | rs57407371 | 1 | GCST90026529 | no MR -> candidate analysis |
| …and 9 more traits (see JSON) |
Top diseases by Open Targets association (of 70 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease | genetic assoc. | burden (ExWAS) | causal status | MR status |
|---|---|---|---|---|
| congenital factor XIII deficiency | 0.826 | — | established (curated) | no MR -> candidate analysis |
| age-related macular degeneration | 0.701 | — | common-variant locus | no MR -> candidate analysis |
| macular degeneration | 0.582 | — | common-variant locus | no MR -> candidate analysis |
| coagulation protein disease | 0.559 | — | established (curated) | no MR -> candidate analysis |
| factor XIII deficiency | 0.547 | — | established (curated) | no MR -> candidate analysis |
| cholesteatoma | 0.547 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.317 | — | established (curated) | no MR -> candidate analysis |
| psoriasis | 0.195 | — | common-variant locus | no MR -> candidate analysis |
| thrombotic disease | 0.195 | — | established (curated) | no MR -> candidate analysis |
| retinal disorder | 0.131 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.068 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.07 | — | common-variant locus | no MR -> candidate analysis |
| optic choroid disorder | 0.061 | — | common-variant locus | no MR -> candidate analysis |
| degeneration of macula and posterior pole | 0.039 | — | common-variant locus | no MR -> candidate analysis |
| wet macular degeneration | 0.038 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Coagulation factor XIII B chain) |
| gnomAD constraint | not available |
| GWAS Catalog | 100 unique SNPs / 204 rows |
| ClinVar | 195 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 70 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘F13B’ and resolved to ‘Coagulation factor XIII B chain’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 195 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 20 of 21 traits by best p-value, aggregated from 30 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/P05160 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000143278/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3351193/ — ChEMBL_37 (released 2026-05-01)gwas: https://www.ebi.ac.uk/gwas/genes/F13B — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=F13B%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/F13B — GWAS Catalog search API (live; release not exposed)