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 |
|---|---|---|---|---|---|---|---|
| Eye problems or disorders: Glaucoma | 0.257 | 0.0665 | 1.14e-04 | Wald ratio | 1 | trans | NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision | 0.355 | 0.0947 | 1.80e-04 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions | 0.386 | 0.104 | 2.10e-04 | Wald ratio | 1 | trans | NA |
| Squamous cell lung cancer | -0.437 | 0.125 | 4.65e-04 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | 0.0263 | 0.00838 | 0.00172 | Wald ratio | 1 | trans | NA |
| Packed cell volume | -0.288 | 0.109 | 0.00814 | Wald ratio | 1 | trans | NA |
| Haemoglobin concentration | -0.0948 | 0.036 | 0.00848 | Wald ratio | 1 | trans | NA |
| Height | 0.0373 | 0.0153 | 0.015 | Wald ratio | 1 | trans | NA |
| Percent emphysema | -0.094 | 0.0406 | 0.0205 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0203 | 0.00884 | 0.0218 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | -0.302 | 0.133 | 0.0236 | Wald ratio | 1 | trans | NA |
| Serum creatinine (eGFRcrea) | 0.00911 | 0.00414 | 0.0278 | 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).
142 association rows across 37 traits (137 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 |
|---|---|---|---|---|---|
| CGREF1 protein levels | 4e-71 | rs61750982 | 5 | GCST90468735 | no MR -> candidate analysis |
| Low-density lipoprotein levels (MTAG) | 3e-31 | rs75388820 | 1 | GCST90179148 | no MR -> candidate analysis |
| Monounsaturated fatty acid levels | 4e-30 | rs7573066 | 11 | GCST90502030 | no MR -> candidate analysis |
| Omega-6 fatty acids to total fatty acids percentage | 3e-28 | rs7573066 | 12 | GCST90502121 | no MR -> candidate analysis |
| Saturated fatty acids levels | 2e-27 | rs7588926 | 16 | GCST90502186 | no MR -> candidate analysis |
| Total fatty acid levels | 6e-26 | rs7588926 | 13 | GCST90502212 | no MR -> candidate analysis |
| Polyunsaturated fatty acids to monounsaturated fatty acids r | 9e-26 | rs7573066 | 11 | GCST90502147 | no MR -> candidate analysis |
| Monounsaturated fatty acids to total fatty acids percentage | 1e-25 | rs7573066 | 10 | GCST90502043 | no MR -> candidate analysis |
| Cerebrospinal fluid protein CGREF1 levels | 4e-25 | rs75388820 | 1 | GCST90944186 | no MR -> candidate analysis |
| Triglyceride levels | 5e-22 | rs116170113 | 2 | GCST90019523 | no MR -> candidate analysis |
| Polyunsaturated fatty acids to total fatty acids percentage | 1e-21 | rs7588926 | 8 | GCST90502173 | no MR -> candidate analysis |
| Polyunsaturated fatty acids to saturated fatty acids ratio | 1e-18 | rs7588926 | 6 | GCST90502160 | no MR -> candidate analysis |
| …and 25 more traits (see JSON) |
Top diseases by Open Targets association (of 88 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 |
|---|---|---|---|---|
| risk-taking behaviour | 0.564 | — | common-variant locus | no MR -> candidate analysis |
| musculoskeletal system disorder | 0.444 | — | common-variant locus | no MR -> candidate analysis |
| attention deficit-hyperactivity disorder | 0.434 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.409 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, knee | 0.409 | — | common-variant locus | no MR -> candidate analysis |
| Limb pain | 0.401 | — | common-variant locus | no MR -> candidate analysis |
| Abdominal pain | 0.326 | — | common-variant locus | MR: beta=-0.0585, p=0.265 (trans) |
| Headache | 0.326 | — | common-variant locus | no MR -> candidate analysis |
| essential fructosuria | 0.313 | — | established (curated) | no MR -> candidate analysis |
| mathematical ability | 0.292 | — | common-variant locus | no MR -> candidate analysis |
| anxiety disorder | 0.25 | — | common-variant locus | no MR -> candidate analysis |
| smoking cessation | 0.245 | — | common-variant locus | no MR -> candidate analysis |
| endometriosis | 0.129 | — | common-variant locus | no MR -> candidate analysis |
| metabolic dysfunction-associated steatotic liver disease | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.058 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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=6.4e-06, LOEUF=1.4 — LoF-tolerant |
| GWAS Catalog | 102 unique SNPs / 210 rows |
| ClinVar | 130 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 88 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 ‘CGREF1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 130 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 37 traits by best p-value, aggregated from 142 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/Q99674 — 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/ENSG00000138028/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CGREF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CGREF1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CGREF1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CGREF1 — GWAS Catalog search API (live; release not exposed)