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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: hypertension | -0.108 | 0.018 | 1.67e-09 | Wald ratio | 1 | cis | 0.993 |
| Diastolic blood pressure automated reading | -0.0556 | 0.00967 | 9.34e-09 | Wald ratio | 1 | cis | 9.13e-05 |
| Systolic blood pressure automated reading | -0.0531 | 0.00967 | 4.01e-08 | Wald ratio | 1 | cis | 1.82e-06 |
| Coronary heart disease | -0.177 | 0.0363 | 1.18e-06 | Wald ratio | 1 | cis | NA |
| HbA1C | 0.0542 | 0.0135 | 6.33e-05 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0812 | 0.0244 | 8.90e-04 | Wald ratio | 1 | cis | NA |
| Pulse rate | 0.0526 | 0.0166 | 0.00157 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | -0.125 | 0.0404 | 0.00195 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.197 | 0.0651 | 0.00245 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.147 | 0.0488 | 0.00256 | Wald ratio | 1 | cis | NA |
| Chronic kidney disease | -0.181 | 0.0602 | 0.0027 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | 0.165 | 0.0561 | 0.00336 | 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).
167 association rows across 93 traits (155 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 |
|---|---|---|---|---|---|
| Switch-associated protein 70 levels | 3e-733 | rs6483656 | 3 | GCST90249745 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 4e-80 | rs10770059 | 3 | GCST90838669 | no MR -> candidate analysis |
| Mean spheric corpuscular volume | 9e-66 | rs415895 | 1 | GCST90002397 | no MR -> candidate analysis |
| Glycated haemoglobin HbA1c levels (UKB data field 30750) | 1e-55 | rs415895 | 1 | GCST90468072 | no MR -> candidate analysis |
| Serum levels of protein SWAP70 | 1e-53 | rs360153 | 1 | GCST90087522 | no MR -> candidate analysis |
| Systolic blood pressure | 2e-49 | rs360153 | 14 | GCST90662908 | MR: beta=-0.0531, p=4.01e-08 (cis) |
| Mean sphered cell volume (UKB data field 30270) | 4e-48 | rs10770059 | 1 | GCST90468089 | no MR -> candidate analysis |
| Hemoglobin A1c levels | 1e-45 | rs4910498 | 1 | GCST90018958 | no MR -> candidate analysis |
| Platelet distribution width (UKB data field 30110) | 3e-45 | rs415895 | 1 | GCST90468097 | no MR -> candidate analysis |
| Diastolic blood pressure | 6e-45 | rs360153 | 13 | GCST90662909 | MR: beta=-0.0556, p=9.34e-09 (cis) |
| Mean corpuscular hemoglobin concentration | 9e-41 | rs415895 | 4 | GCST90002391 | no MR -> candidate analysis |
| Hemoglobin A1c (HbA1c, minimum, inv-norm transformed) | 1e-37 | rs415895 | 1 | GCST90475097 | no MR -> candidate analysis |
| …and 81 more traits (see JSON) |
Top diseases by Open Targets association (of 127 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 |
|---|---|---|---|---|
| hypertensive disorder | 0.93 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.846 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.774 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.728 | — | common-variant locus | no MR -> candidate analysis |
| Increased blood pressure | 0.718 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.69 | — | common-variant locus | no MR -> candidate analysis |
| rheumatoid arthritis | 0.631 | — | common-variant locus | no MR -> candidate analysis |
| hypothyroidism | 0.633 | — | common-variant locus | MR: beta=-0.147, p=0.00256 (cis) |
| ischemic stroke | 0.629 | — | common-variant locus | MR: beta=-0.135, p=0.0369 (cis) |
| heart failure | 0.592 | — | common-variant locus | no MR -> candidate analysis |
| autoimmune disease | 0.515 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.512 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.504 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.504 | — | common-variant locus | no MR -> candidate analysis |
| breast carcinoma | 0.455 | — | 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=0.087, LOEUF=0.564 — LoF-tolerant |
| GWAS Catalog | 84 unique SNPs / 168 rows |
| ClinVar | 75 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 127 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 ‘SWAP70’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 75 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 93 traits by best p-value, aggregated from 167 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/Q9UH65 — 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/ENSG00000133789/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SWAP70 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SWAP70 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SWAP70%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SWAP70 — GWAS Catalog search API (live; release not exposed)