Protein Dossier — CNTFR (Ciliary neurotrophic factor receptor subunit alpha)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Non-cancer illness code self-reported: bladder problem (not cancer) |
0.408 |
0.115 |
3.85e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: depression |
0.127 |
0.0472 |
0.00714 |
Wald ratio |
1 |
cis |
NA |
| Caudate volume |
81.3 |
30.5 |
0.00775 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
0.602 |
0.248 |
0.0152 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
0.0314 |
0.0133 |
0.0179 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.23 |
0.0985 |
0.0195 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.0261 |
0.0112 |
0.0202 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
0.297 |
0.146 |
0.0423 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0211 |
0.0106 |
0.0472 |
Wald ratio |
1 |
cis |
NA |
| Nucleus accumbens volume |
14.2 |
7.22 |
0.0491 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
71 |
36.7 |
0.0531 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Wrist |
0.14 |
0.081 |
0.0832 |
Wald ratio |
1 |
cis |
NA |
| …and 55 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2711_6_2 |
CNTFR alpha |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
24 association rows across 20 traits (21 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 |
| Ciliary neurotrophic factor receptor subunit alpha levels |
2e-48 |
rs10972159 |
2 |
GCST90247080 |
no MR -> candidate analysis |
| Serum levels of protein CNTFR |
4e-32 |
rs10972159 |
2 |
GCST90087783 |
no MR -> candidate analysis |
| NUDT2 protein levels |
1e-19 |
rs7037232 |
1 |
GCST90470106 |
no MR -> candidate analysis |
| Blood protein levels |
3e-18 |
rs1571401 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Osteoarthritis |
2e-14 |
rs7036975 |
1 |
GCST90566795 |
no MR -> candidate analysis |
| Ciliary neurotrophic factor receptor subunit alpha levels (C |
1e-13 |
rs10972159 |
1 |
GCST90240708 |
no MR -> candidate analysis |
| IDUA protein levels |
3e-13 |
rs3763613 |
1 |
GCST90469508 |
no MR -> candidate analysis |
| Ciliary neurotrophic factor receptor subunit alpha level in |
3e-12 |
rs73645429 |
1 |
GCST90234188 |
no MR -> candidate analysis |
| Body mass index |
3e-12 |
rs73645429 |
1 |
GCST90662912 |
no MR -> candidate analysis |
| Diastolic blood pressure |
2e-11 |
rs10814119 |
1 |
GCST90662909 |
MR: beta=0.0314, p=0.0179 (cis) |
| Adolescent idiopathic scoliosis |
2e-10 |
rs13290451 |
2 |
GCST008788 |
no MR -> candidate analysis |
| Aspartate aminotransferase levels |
1e-9 |
rs13290451 |
1 |
GCST90018944 |
no MR -> candidate analysis |
| …and 8 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 229 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 |
| response to antihypertensive drug |
0.344 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertensive disorder |
0.122 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to xenobiotic stimulus |
0.088 |
— |
common-variant locus |
no MR -> candidate analysis |
| Nephropathy |
0.088 |
— |
common-variant locus |
no MR -> candidate analysis |
| nephritis |
0.088 |
— |
common-variant locus |
no MR -> candidate analysis |
| hypertensive heart disease |
0.083 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 6 rows above, 6 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.99, LOEUF=0.481 — LoF-INTOLERANT |
| GWAS Catalog |
50 unique SNPs / 99 rows |
| ClinVar |
130 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 229 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 ‘CNTFR’.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 20 traits by best p-value, aggregated from 24 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/P26992 — 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/ENSG00000122756/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNTFR — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNTFR — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNTFR%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNTFR — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:55:06 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none