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 |
|---|---|---|---|---|---|---|---|
| Low grade serous ovarian cancer | 0.506 | 0.196 | 0.00964 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0235 | 0.00937 | 0.0123 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.605 | 0.264 | 0.0221 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate | 0.203 | 0.0949 | 0.0321 | Wald ratio | 1 | cis | NA |
| Endometrioid ovarian cancer | -0.255 | 0.122 | 0.0376 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | -0.188 | 0.0967 | 0.0513 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | 0.176 | 0.0923 | 0.0573 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I30 Acute pericarditis | 0.614 | 0.327 | 0.0604 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.085 | 0.0455 | 0.0617 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pernicious anaemia | 0.253 | 0.137 | 0.0652 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0249 | 0.0139 | 0.0721 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | -0.325 | 0.183 | 0.0761 | Wald ratio | 1 | cis | NA |
| …and 52 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
133 association rows across 80 traits (121 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 |
|---|---|---|---|---|---|
| Cerebrospinal fluid protein CYTL1 levels | 5e-171 | rs11722554 | 1 | GCST90944740 | no MR -> candidate analysis |
| Height | 6e-145 | rs9998195 | 9 | GCST90245848 | no MR -> candidate analysis |
| Cytokine-like protein 1 levels | 1e-50 | rs62291577 | 2 | GCST90247225 | no MR -> candidate analysis |
| Serum levels of protein CYTL1 | 9e-46 | rs6446315 | 2 | GCST90090186 | no MR -> candidate analysis |
| Peak expiratory flow | 1e-37 | rs35263598 | 3 | GCST90244095 | no MR -> candidate analysis |
| Blood protein levels | 1e-32 | rs62291616 | 1 | GCST006585 | no MR -> candidate analysis |
| CYTL1 protein levels | 1e-27 | rs7672326 | 4 | GCST90468940 | no MR -> candidate analysis |
| Waist-hip index | 2e-27 | rs4450871 | 4 | GCST90020027 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 4e-27 | rs11722554 | 2 | GCST90468178 | no MR -> candidate analysis |
| Waist-to-hip ratio adjusted for BMI | 9e-27 | rs4450871 | 9 | GCST90020025 | no MR -> candidate analysis |
| Height (baseline) | 2e-26 | rs11722554 | 2 | GCST90565843 | no MR -> candidate analysis |
| Metabolic biomarkers (multivariate analysis) | 2e-24 | rs4450871 | 1 | GCST90038594 | no MR -> candidate analysis |
| …and 68 more traits (see JSON) |
Top diseases by Open Targets association (of 109 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 |
|---|---|---|---|---|
| type 1 diabetes mellitus | 0.519 | — | common-variant locus | no MR -> candidate analysis |
| atherosclerosis | 0.519 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.519 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.212 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.174 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.183 | — | common-variant locus | no MR -> candidate analysis |
| mathematical ability | 0.182 | — | common-variant locus | no MR -> candidate analysis |
| humerus fracture | 0.174 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.154 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.149 | — | common-variant locus | no MR -> candidate analysis |
| ovarian neoplasm | 0.138 | — | common-variant locus | no MR -> candidate analysis |
| Splenomegaly | 0.131 | — | common-variant locus | no MR -> candidate analysis |
| chronic obstructive pulmonary disease | 0.115 | — | common-variant locus | no MR -> candidate analysis |
| preeclampsia | 0.106 | — | common-variant locus | no MR -> candidate analysis |
| spermatocele | 0.078 | — | 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=1e-07, LOEUF=1.94 — LoF-tolerant |
| GWAS Catalog | 82 unique SNPs / 125 rows |
| ClinVar | 144 records; 13 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 109 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 ‘CYTL1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 144 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 80 traits by best p-value, aggregated from 133 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/Q9NRR1 — 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/ENSG00000170891/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CYTL1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CYTL1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CYTL1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CYTL1 — GWAS Catalog search API (live; release not exposed)