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 |
|---|---|---|---|---|---|---|---|
| Age at menarche | -0.0621 | 0.0116 | 9.00e-08 | Wald ratio | 1 | trans | 0.88 |
| Weight | -0.0217 | 0.00414 | 1.55e-07 | Wald ratio | 1 | trans | 0.0065 |
| Body mass index (BMI) | -0.0184 | 0.00468 | 8.63e-05 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.0631 | 0.0167 | 1.57e-04 | Wald ratio | 1 | trans | NA |
| Ovarian cancer | 0.092 | 0.026 | 3.95e-04 | Wald ratio | 1 | trans | NA |
| Serum cystatin C (eGFRcys) | -0.0135 | 0.00383 | 4.25e-04 | Wald ratio | 1 | trans | NA |
| High grade serous ovarian cancer | 0.0891 | 0.0309 | 0.00394 | Wald ratio | 1 | trans | NA |
| Small vessel disease | 0.207 | 0.0727 | 0.00435 | Wald ratio | 1 | trans | NA |
| Total cholesterol | -0.0294 | 0.0104 | 0.00473 | Wald ratio | 1 | trans | NA |
| Pulse rate | -0.023 | 0.00827 | 0.00541 | Wald ratio | 1 | trans | NA |
| HDL cholesterol | -0.0256 | 0.00968 | 0.00825 | Wald ratio | 1 | trans | NA |
| Creatinine (enzymatic) in urine | -0.0114 | 0.00449 | 0.011 | Wald ratio | 1 | trans | NA |
| …and 84 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
14 association rows across 7 traits (11 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 |
|---|---|---|---|---|---|
| WFDC12 protein levels | 1e-33 | rs555590563 | 7 | GCST90471073 | no MR -> candidate analysis |
| Elafin levels | 3e-21 | rs34274189 | 2 | GCST90162216 | no MR -> candidate analysis |
| Height (baseline) | 2e-15 | rs11699099 | 1 | GCST90565843 | no MR -> candidate analysis |
| PI3 protein levels | 1e-11 | rs6017525 | 1 | GCST90470230 | no MR -> candidate analysis |
| Asthma | 3e-6 | rs16989837 | 1 | GCST005212 | MR: beta=-0.00917, p=0.489 (trans) |
| Bipolar disorder | 3e-6 | rs190905111 | 1 | GCST008103 | MR: beta=-0.0903, p=0.375 (trans) |
| Gut microbiota (bacterial taxa, hurdle binary method) | 3e-6 | rs6124695 | 1 | GCST010396 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 45 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 |
|---|---|---|---|---|
| nephrotic syndrome | 0.041 | — | common-variant locus | no MR -> candidate analysis |
| sialolithiasis | 0.041 | — | common-variant locus | no MR -> candidate analysis |
Of the 2 rows above, 2 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=0.41, LOEUF=0.962 — LoF-tolerant |
| GWAS Catalog | 53 unique SNPs / 106 rows |
| ClinVar | 104 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 45 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 ‘SEMG2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 104 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 7 of 7 traits by best p-value, aggregated from 14 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/Q02383 — 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/ENSG00000124157/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SEMG2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SEMG2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SEMG2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SEMG2 — GWAS Catalog search API (live; release not exposed)