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 | -0.0102 | 0.00288 | 4.08e-04 | Wald ratio | 1 | cis | NA |
| Birth weight | 0.0133 | 0.00454 | 0.00347 | Wald ratio | 1 | cis | NA |
| Happiness | 0.00956 | 0.00347 | 0.00584 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | -0.0686 | 0.0255 | 0.00715 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | -0.0215 | 0.00909 | 0.0183 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | -0.082 | 0.0379 | 0.0305 | Wald ratio | 1 | cis | NA |
| Invasive mucinous ovarian cancer | 0.105 | 0.0485 | 0.0306 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypopituitarism | 0.259 | 0.12 | 0.0312 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.0263 | 0.0122 | 0.0313 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | 0.0199 | 0.00925 | 0.0314 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | 0.0589 | 0.0278 | 0.0339 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.0748 | 0.0356 | 0.0357 | Wald ratio | 1 | cis | NA |
| …and 63 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
59 association rows across 47 traits (30 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 |
|---|---|---|---|---|---|
| Semaphorin-5A levels | 1e-72 | rs368861373 | 9 | GCST90161309 | no MR -> candidate analysis |
| Semaphorin-5B levels | 1e-36 | rs17262778 | 1 | GCST90423774 | no MR -> candidate analysis |
| Serum levels of protein SEMA5A | 3e-35 | rs3797975 | 1 | GCST90087396 | no MR -> candidate analysis |
| Core binding factor acute myeloid leukemia | 2e-16 | rs10062083; rs922548; rs17238371; rs13359124; rs12519207; rs6876019; rs6555593; rs983856; rs6863413; rs16882096; rs12189232; rs984425; rs899575; rs899576; rs886511 | 2 | GCST008413 | no MR -> candidate analysis |
| Vertex-wise sulcal depth | 3e-16 | rs788321 | 1 | GCST90095129 | no MR -> candidate analysis |
| V-type proton ATPase subunit C 2 protein levels (SomaScan ID | 7e-14 | rs72729191 | 1 | GCST90440048 | no MR -> candidate analysis |
| GLIPR1 protein levels | 2e-13 | rs182334129 | 1 | GCST90469357 | no MR -> candidate analysis |
| Coronary artery disease | 4e-13 | rs112941079 | 1 | GCST005195 | no MR -> candidate analysis |
| Pyogenic arthritis (PheCode 711.1) | 4e-12 | rs530847695 | 1 | GCST90480495 | no MR -> candidate analysis |
| Cortical surface area | 6e-12 | rs788321 | 1 | GCST90091060 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 6e-12 | rs788321 | 1 | GCST90095130 | no MR -> candidate analysis |
| Arthropathy associated with infections (PheCode 711) | 3e-11 | rs530847695 | 1 | GCST90480496 | no MR -> candidate analysis |
| …and 35 more traits (see JSON) |
Top diseases by Open Targets association (of 202 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 |
|---|---|---|---|---|
| coronary artery disorder | 0.821 | — | common-variant locus | no MR -> candidate analysis |
| hair color | 0.672 | — | common-variant locus | no MR -> candidate analysis |
| heart disorder | 0.655 | — | common-variant locus | no MR -> candidate analysis |
| myocardial ischemia | 0.624 | — | common-variant locus | no MR -> candidate analysis |
| coronary atherosclerosis | 0.61 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.546 | — | common-variant locus | no MR -> candidate analysis |
| subarachnoid hemorrhage | 0.504 | — | common-variant locus | no MR -> candidate analysis |
| Nasal polyposis | 0.484 | — | common-variant locus | no MR -> candidate analysis |
| sialadenitis | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| gestational diabetes | 0.445 | — | common-variant locus | no MR -> candidate analysis |
| central nervous system infectious disorder | 0.436 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| breast disorder | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| breast benign neoplasm | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| pneumonia | 0.382 | — | 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=0.37, LOEUF=0.508 — LoF-tolerant |
| GWAS Catalog | 81 unique SNPs / 162 rows |
| ClinVar | 382 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 202 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 ‘SEMA5A’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 382 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 47 traits by best p-value, aggregated from 59 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/Q13591 — 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/ENSG00000112902/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SEMA5A — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SEMA5A — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SEMA5A%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SEMA5A — GWAS Catalog search API (live; release not exposed)