CausalSentinel

Protein Dossier — C1QTNF1 (Complement C1q tumor necrosis factor-related protein 1)

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
Age at menarche	-0.0722	0.0223	0.0012	Inverse variance weighted	2	trans	NA
Age at menarche	-0.0722	0.0223	0.0012	Inverse variance weighted	2	trans	NA
Parkinson’s disease	-0.673	0.231	0.00352	Wald ratio	1	trans	NA
Amyotrophic lateral sclerosis	-0.168	0.0619	0.00666	Inverse variance weighted	2	trans	NA
Amyotrophic lateral sclerosis	-0.168	0.0619	0.00666	Inverse variance weighted	2	trans	NA
Serum cystatin C (eGFRcys)	0.0202	0.00748	0.00694	Inverse variance weighted	2	trans	NA
Serum cystatin C (eGFRcys)	0.0202	0.00748	0.00694	Inverse variance weighted	2	trans	NA
Body mass index (BMI)	-0.0229	0.00849	0.00697	Inverse variance weighted	2	trans	NA
Body mass index (BMI)	-0.0229	0.00849	0.00697	Inverse variance weighted	2	trans	NA
Years of schooling	0.036	0.0148	0.0147	Inverse variance weighted	2	trans	NA
Years of schooling	0.036	0.0148	0.0147	Inverse variance weighted	2	trans	NA
Potassium in urine	0.0205	0.00862	0.0173	Inverse variance weighted	2	trans	NA
…and 170 more outcomes (see JSON)

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

21 association rows across 11 traits (20 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
C1QTNF1 protein levels	1e-300	rs116539064	3	GCST90468488	no MR -> candidate analysis
Circulating C1QTNF1 levels	5e-240	rs62063350	4	GCST90860498	no MR -> candidate analysis
Bone mineral density mean	4e-86	rs138903370	1	GCST90321120	no MR -> candidate analysis
COL4A1 protein levels	7e-80	rs116539064	2	GCST90468818	no MR -> candidate analysis
Cerebrospinal fluid protein C1QTNF1 levels	1e-63	rs4789912	1	GCST90944953	no MR -> candidate analysis
Circulating COL4A1 levels	1e-56	rs62076468	2	GCST90860524	no MR -> candidate analysis
Height	1e-28	rs15538	2	GCST90245848	no MR -> candidate analysis
COL18A1 protein levels	2e-20	rs116539064	2	GCST90468812	no MR -> candidate analysis
Circulating COL18A1 levels	3e-15	rs61436076	2	GCST90860468	no MR -> candidate analysis
LGALS3BP protein levels	2e-13	rs147385581	1	GCST90469760	no MR -> candidate analysis
Drusen volume within a central 5 mm circle (model 2)	9e-6	rs62063772	1	GCST90132239	no MR -> candidate analysis

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

No genetically-associated diseases retrieved from Open Targets.

5. Downstream annotation (druggability & safety preview)

Layer	Result
ChEMBL druggability	not available — no ChEMBL target (undrugged)
gnomAD constraint	pLI=9.1e-07, LOEUF=1.13 — LoF-tolerant
GWAS Catalog	59 unique SNPs / 118 rows
ClinVar	78 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 453 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 ‘C1QTNF1’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 78 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 11 of 11 traits by best p-value, aggregated from 21 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/Q9BXJ1 — 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 v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000173918/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/C1QTNF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/C1QTNF1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=C1QTNF1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/C1QTNF1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T01:20:37 · 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

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