Protein Dossier — C7 (Complement component C7)
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 |
| Years of schooling |
0.0323 |
0.00923 |
4.65e-04 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.0195 |
0.00613 |
0.0015 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0139 |
0.00511 |
0.00654 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: gout |
0.125 |
0.0462 |
0.00679 |
Wald ratio |
1 |
cis |
NA |
| Rheumatoid arthritis |
0.113 |
0.0449 |
0.0121 |
Wald ratio |
1 |
cis |
NA |
| Childhood intelligence |
0.0822 |
0.033 |
0.0128 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Diabetes related eye disease |
-0.233 |
0.102 |
0.0223 |
Wald ratio |
1 |
cis |
NA |
| HOMA-B |
0.0194 |
0.00854 |
0.0232 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
0.0561 |
0.0249 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Coronary heart disease |
-0.0536 |
0.0242 |
0.0265 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone |
-0.178 |
0.0848 |
0.0356 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting |
0.174 |
0.084 |
0.0386 |
Wald ratio |
1 |
cis |
NA |
| …and 87 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2888_49_2 |
C7 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
219 association rows across 163 traits (210 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 |
| Complement component C7 levels |
3e-213 |
rs74480769 |
10 |
GCST90246793 |
no MR -> candidate analysis |
| C7 protein levels |
1e-112 |
rs142758880 |
9 |
GCST90468502 |
no MR -> candidate analysis |
| Serum levels of protein C7 |
1e-98 |
rs74480769 |
4 |
GCST90087644 |
no MR -> candidate analysis |
| Complement component C7 (analyte X2888.49) levels |
6e-92 |
rs74480769 |
1 |
GCST90425520 |
no MR -> candidate analysis |
| Complement component C7 (analyte X13731.14) levels |
4e-80 |
rs74480769 |
1 |
GCST90422332 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein C7 levels |
2e-78 |
rs74480769 |
1 |
GCST90945083 |
no MR -> candidate analysis |
| Apolipoprotein D levels |
1e-48 |
rs74480769 |
3 |
GCST90162137 |
no MR -> candidate analysis |
| Phosphotriesterase-related protein levels |
3e-47 |
rs2455302 |
1 |
GCST90424890 |
no MR -> candidate analysis |
| Kallikrein-14 levels |
7e-46 |
rs74480769 |
3 |
GCST90161883 |
no MR -> candidate analysis |
| Tyrosine-protein kinase ZAP-70 levels |
6e-37 |
rs74480769 |
2 |
GCST90162090 |
no MR -> candidate analysis |
| Blood protein levels |
1e-36 |
rs74480769 |
25 |
GCST006585 |
no MR -> candidate analysis |
| CD97 antigen levels |
2e-36 |
rs74480769 |
2 |
GCST90161494 |
no MR -> candidate analysis |
| …and 151 more traits (see JSON) |
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|
|
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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 562 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 |
| Immunodeficiency due to a late component of complements deficiency |
0.882 |
— |
established (curated) |
no MR -> candidate analysis |
| immunodeficiency due to a late component of complement deficiency |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| alcohol drinking |
0.479 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to xenobiotic stimulus |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.385 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian neoplasm |
0.384 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.319 |
— |
established (curated) |
no MR -> candidate analysis |
| inflammatory bowel disease |
0.164 |
— |
common-variant locus |
no MR -> candidate analysis |
| Crohn disease |
0.111 |
— |
common-variant locus |
no MR -> candidate analysis |
| arthritic joint disease |
0.1 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 10 rows above, 10 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=1.5e-22, LOEUF=0.951 — LoF-tolerant |
| GWAS Catalog |
59 unique SNPs / 117 rows |
| ClinVar |
720 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 562 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 720 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 163 traits by best p-value, aggregated from 219 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/P10643 — 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/ENSG00000112936/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/C7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/C7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=C7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/C7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:23:11 · 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: chembl