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 | 0.043 | 0.0143 | 0.00272 | Wald ratio | 1 | cis | NA |
| Height | 0.0497 | 0.0171 | 0.00373 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | 0.242 | 0.0868 | 0.00525 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: prostate cancer | 0.323 | 0.121 | 0.00767 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | 0.37 | 0.144 | 0.0104 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0464 | 0.0182 | 0.0107 | Wald ratio | 1 | cis | NA |
| Coronary heart disease | 0.13 | 0.0534 | 0.0151 | Wald ratio | 1 | cis | NA |
| Type 2 diabetes | 0.169 | 0.0711 | 0.0176 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.0691 | 0.0291 | 0.0177 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | 0.0522 | 0.023 | 0.0231 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate | 0.296 | 0.131 | 0.0236 | Wald ratio | 1 | cis | NA |
| Serum cystatin C (eGFRcys) | 0.0234 | 0.0109 | 0.0309 | Wald ratio | 1 | cis | NA |
| …and 88 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
174 association rows across 101 traits (131 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 2e-161 | rs78465953 | 3 | GCST90321120 | no MR -> candidate analysis |
| Platelet glycoprotein 4 levels | 2e-146 | rs139906208 | 3 | GCST90137913 | no MR -> candidate analysis |
| HDL cholesterol levels x alcohol consumption (regular vs non | 6e-51 | rs4470970 | 3 | GCST008075 | no MR -> candidate analysis |
| mean corpuscular volume (MCV, mean, inv-norm transformed) | 4e-34 | rs7797401 | 2 | GCST90475470 | no MR -> candidate analysis |
| CD36 protein levels | 1e-32 | rs11980784 | 2 | GCST90468627 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 3e-32 | rs139906208 | 3 | GCST90838667 | no MR -> candidate analysis |
| mean corpuscular volume (MCV, minimum, inv-norm transformed) | 5e-29 | rs7797401 | 2 | GCST90475474 | no MR -> candidate analysis |
| Mean sphered cell volume (UKB data field 30270) | 3e-28 | rs181616813 | 1 | GCST90468089 | no MR -> candidate analysis |
| Semaphorin-3C levels | 2e-26 | rs7783868 | 2 | GCST90249485 | no MR -> candidate analysis |
| HDL x low social support interaction (2df test) | 9e-23 | rs139906208 | 2 | GCST90570699 | no MR -> candidate analysis |
| Red blood cell count | 2e-22 | rs148083940 | 5 | GCST90002367 | no MR -> candidate analysis |
| Red cell distribution width | 6e-22 | rs7797401 | 6 | GCST004621 | no MR -> candidate analysis |
| …and 89 more traits (see JSON) |
Top diseases by Open Targets association (of 501 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 |
|---|---|---|---|---|
| atrial fibrillation | 0.821 | — | common-variant locus | MR: beta=-0.211, p=0.215 (cis) |
| coronary artery disorder | 0.726 | — | common-variant locus | no MR -> candidate analysis |
| glaucoma | 0.703 | — | common-variant locus | MR: beta=-0.161, p=0.253 (cis) |
| open-angle glaucoma | 0.686 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.64 | — | common-variant locus | no MR -> candidate analysis |
| inborn disorder of amino acid metabolism | 0.523 | — | common-variant locus | no MR -> candidate analysis |
| atrial septal defect | 0.448 | — | common-variant locus | no MR -> candidate analysis |
| subarachnoid hemorrhage | 0.467 | — | common-variant locus | no MR -> candidate analysis |
| alopecia areata | 0.459 | — | common-variant locus | no MR -> candidate analysis |
| posterior cortical atrophy | 0.421 | — | common-variant locus | no MR -> candidate analysis |
| disorder of ear | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| glomerulonephritis | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.421 | — | common-variant locus | no MR -> candidate analysis |
| shoulder fracture | 0.405 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.1e-06, LOEUF=0.67 — LoF-tolerant |
| GWAS Catalog | 155 unique SNPs / 326 rows |
| ClinVar | 289 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 501 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — No ChEMBL target for ‘SEMA3C’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 289 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 101 traits by best p-value, aggregated from 174 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/Q99985 — 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/ENSG00000075223/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SEMA3C — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SEMA3C — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SEMA3C%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=SEMA3C — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/SEMA3C — GWAS Catalog search API (live; release not exposed)