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 |
|---|---|---|---|---|---|---|---|
| Forced vital capacity (FVC) | -0.0239 | 0.00466 | 3.08e-07 | Wald ratio | 1 | cis | 0.977 |
| Forced expiratory volume in 1-second (FEV1) | -0.0237 | 0.00492 | 1.39e-06 | Wald ratio | 1 | cis | NA |
| Weight | -0.0197 | 0.00502 | 8.49e-05 | Wald ratio | 1 | cis | NA |
| Height | -0.027 | 0.00719 | 1.77e-04 | Wald ratio | 1 | cis | NA |
| Fasting glucose | -0.02 | 0.00764 | 0.00885 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.102 | 0.0391 | 0.00933 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -0.0962 | 0.0383 | 0.012 | Wald ratio | 1 | cis | NA |
| Age at menopause | 0.112 | 0.045 | 0.0124 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | 0.126 | 0.0507 | 0.0128 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | 0.0625 | 0.0258 | 0.0154 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | 0.163 | 0.0675 | 0.0157 | Wald ratio | 1 | cis | NA |
| Subjective well being | 0.0157 | 0.00674 | 0.0196 | Wald ratio | 1 | cis | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
38 association rows across 20 traits (35 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 |
|---|---|---|---|---|---|
| Pigment epithelium-derived factor levels | 2e-174 | rs62088172 | 5 | GCST90248939 | no MR -> candidate analysis |
| Height | 8e-158 | rs1136287 | 4 | GCST90245848 | MR: beta=-0.027, p=1.77e-04 (cis) |
| Serum levels of protein SERPINF1 | 1e-89 | rs62088172 | 2 | GCST90089792 | no MR -> candidate analysis |
| Pigment epithelium-derived factor levels (SERPINF1.9211.19.3 | 2e-70 | rs62088172 | 4 | GCST90242263 | no MR -> candidate analysis |
| SERPINF1 protein levels | 4e-49 | rs62088172 | 5 | GCST90453230 | no MR -> candidate analysis |
| Blood protein levels | 5e-49 | rs1136287 | 2 | GCST006585 | no MR -> candidate analysis |
| Cerebrospinal fluid protein SERPINF1 levels | 1e-31 | rs58697961 | 1 | GCST90945130 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 4e-23 | rs12450371 | 1 | GCST90468178 | no MR -> candidate analysis |
| Alzheimer’s disease or family history of Alzheimer’s disease | 5e-23 | rs1306536849 | 1 | GCST90624094 | no MR -> candidate analysis |
| Height (baseline) | 2e-21 | rs12450371 | 1 | GCST90565843 | no MR -> candidate analysis |
| Body size (confirmatory factor analysis Factor 21) | 6e-19 | rs201076030 | 1 | GCST90309355 | no MR -> candidate analysis |
| Physical function (baseline) | 1e-18 | rs62088172 | 1 | GCST90565837 | no MR -> candidate analysis |
| …and 8 more traits (see JSON) |
Top diseases by Open Targets association (of 748 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 |
|---|---|---|---|---|
| osteogenesis imperfecta | 0.934 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta type 3 | 0.588 | — | established (curated) | no MR -> candidate analysis |
| osteogenesis imperfecta type 4 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.438 | — | established (curated) | no MR -> candidate analysis |
| breast cancer | 0.38 | — | common-variant locus | MR: beta=0.016, p=0.381 (cis) |
| Alzheimer disease | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| breast neoplasm | 0.38 | — | common-variant locus | MR: beta=0.0448, p=0.292 (cis) |
| hereditary disease | 0.317 | — | established (curated) | no MR -> candidate analysis |
| heart disorder | 0.294 | — | common-variant locus | no MR -> candidate analysis |
| estrogen-receptor positive breast cancer | 0.26 | — | common-variant locus | no MR -> candidate analysis |
| hypogonadism | 0.248 | — | common-variant locus | no MR -> candidate analysis |
| osteoporosis | 0.228 | — | established (curated) | MR: beta=-0.0934, p=0.0628 (cis) |
Of the 12 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 (Pigment epithelium-derived factor) |
| gnomAD constraint | pLI=2e-08, LOEUF=1.06 — LoF-tolerant |
| GWAS Catalog | 97 unique SNPs / 194 rows |
| ClinVar | 529 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 748 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 ‘SERPINF1’ and resolved to ‘Pigment epithelium-derived factor’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 529 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 20 traits by best p-value, aggregated from 38 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/P36955 — 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/ENSG00000132386/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295753/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SERPINF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SERPINF1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SERPINF1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SERPINF1 — GWAS Catalog search API (live; release not exposed)