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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.213 | 0.054 | 8.10e-05 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | 0.182 | 0.0493 | 2.21e-04 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0757 | 0.0208 | 2.72e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.462 | 0.156 | 0.00299 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0507 | 0.0173 | 0.00331 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.0706 | 0.0255 | 0.00552 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bladder problem (not cancer) | 0.184 | 0.0688 | 0.00764 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.0873 | 0.0373 | 0.0191 | Wald ratio | 1 | cis | NA |
| Large vessel disease | 0.203 | 0.0867 | 0.0193 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pernicious anaemia | 0.205 | 0.0952 | 0.0316 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | 0.0959 | 0.0451 | 0.0335 | Wald ratio | 1 | cis | NA |
| Cardioembolic stroke | 0.159 | 0.0765 | 0.0372 | Wald ratio | 1 | cis | NA |
| …and 95 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
23 association rows across 14 traits (20 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 |
|---|---|---|---|---|---|
| Extracellular superoxide dismutase [Cu-Zn] levels | 1e-413 | rs1799895 | 5 | GCST90247197 | no MR -> candidate analysis |
| Extracellular superoxide dismutase [Cu-Zn] levels (SOD3.8463 | 4e-140 | rs1799895 | 1 | GCST90241133 | no MR -> candidate analysis |
| SOD3 protein levels | 6e-65 | rs800442 | 3 | GCST90470706 | no MR -> candidate analysis |
| Blood protein levels | 1e-64 | rs2695234 | 2 | GCST006585 | no MR -> candidate analysis |
| Serum levels of protein PLBD1 | 5e-33 | rs1799895 | 1 | GCST90089349 | no MR -> candidate analysis |
| Serum levels of protein LRFN1 | 3e-21 | rs1799895 | 1 | GCST90089916 | no MR -> candidate analysis |
| Creatinine levels | 7e-20 | rs1799895 | 1 | GCST90662902 | no MR -> candidate analysis |
| Creatinine levels (UKB data field 30700) | 2e-16 | rs1799895 | 1 | GCST90468067 | no MR -> candidate analysis |
| Protein phosphatase 1D levels | 1e-14 | rs1799895 | 2 | GCST90249079 | no MR -> candidate analysis |
| Creatinine levels in bottom 99% of individuals by creatinine | 5e-14 | rs1799895 | 1 | GCST90566733 | no MR -> candidate analysis |
| Serum creatinine levels | 2e-13 | rs1799895 | 1 | GCST90018979 | no MR -> candidate analysis |
| Serum levels of protein VNN2 | 4e-13 | rs1799895 | 1 | GCST90089620 | no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 485 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 |
|---|---|---|---|---|
| alcohol drinking | 0.521 | — | common-variant locus | no MR -> candidate analysis |
| aortic atherosclerosis | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| transient ischemic attack | 0.438 | — | common-variant locus | no MR -> candidate analysis |
| malunion fracture | 0.438 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.438 | — | common-variant locus | no MR -> candidate analysis |
| musculoskeletal system disorder | 0.348 | — | common-variant locus | no MR -> candidate analysis |
| bronchial disorder | 0.331 | — | common-variant locus | no MR -> candidate analysis |
| seasonal allergic rhinitis | 0.331 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.292 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 rows above, 9 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 (Extracellular superoxide dismutase [Cu-Zn]) |
| gnomAD constraint | pLI=0.035, LOEUF=2.93 — LoF-tolerant |
| GWAS Catalog | 49 unique SNPs / 98 rows |
| ClinVar | 98 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 485 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 ‘SOD3’ and resolved to ‘Extracellular superoxide dismutase [Cu-Zn]’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 98 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 14 of 14 traits by best p-value, aggregated from 23 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/P08294 — 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/ENSG00000109610/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2069159/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SOD3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SOD3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SOD3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SOD3 — GWAS Catalog search API (live; release not exposed)