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 |
|---|---|---|---|---|---|---|---|
| Height | 0.0308 | 0.00711 | 1.47e-05 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.0427 | 0.0126 | 6.83e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: high cholesterol | -0.0477 | 0.0168 | 0.00465 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0351 | 0.0128 | 0.00613 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | -0.0162 | 0.00607 | 0.00756 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | -0.0729 | 0.0308 | 0.0178 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0189 | 0.00877 | 0.0314 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.013 | 0.00607 | 0.0326 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | 0.0117 | 0.00568 | 0.0397 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting | 0.162 | 0.0809 | 0.0451 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate | -0.17 | 0.087 | 0.0513 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hiatus hernia | 0.0702 | 0.0364 | 0.0535 | Wald ratio | 1 | cis | NA |
| …and 77 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
30 association rows across 21 traits (28 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 1e-300 | rs138380358 | 2 | GCST90321120 | no MR -> candidate analysis |
| Procollagen C-endopeptidase enhancer 2 levels | 4e-192 | rs11716897 | 3 | GCST90248895 | no MR -> candidate analysis |
| Serum levels of protein PCOLCE2 | 4e-94 | rs11716897 | 1 | GCST90089278 | no MR -> candidate analysis |
| Endothelin-converting enzyme 1:Extracellular domain levels | 1e-69 | rs2707975 | 1 | GCST90425830 | no MR -> candidate analysis |
| Height | 8e-68 | rs2707982 | 4 | GCST90245848 | MR: beta=0.0308, p=1.47e-05 (cis) |
| Procollagen C-endopeptidase enhancer 2 levels (PCOLCE2.6081. | 5e-66 | rs34516933 | 1 | GCST90242374 | no MR -> candidate analysis |
| Blood protein levels | 3e-59 | rs4683702 | 1 | GCST006585 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 2e-43 | rs12495602 | 1 | GCST90838669 | no MR -> candidate analysis |
| Endothelin-converting enzyme 1 levels (ECE1.3611.70.4) | 2e-38 | rs4683701 | 1 | GCST90241056 | no MR -> candidate analysis |
| Endothelin-converting enzyme 1 levels | 2e-19 | rs4683702 | 2 | GCST90100962 | no MR -> candidate analysis |
| Biological Grandparent (maternal): Kidney Disease | 1e-11 | rs564490873 | 1 | GCST90479684 | no MR -> candidate analysis |
| Pulse pressure | 1e-11 | rs113546801 | 2 | GCST90018970 | no MR -> candidate analysis |
| …and 9 more traits (see JSON) |
Top diseases by Open Targets association (of 137 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.587 | — | common-variant locus | no MR -> candidate analysis |
| Hypercholesterolemia | 0.52 | — | common-variant locus | MR: beta=-0.0427, p=6.83e-04 (cis) |
| urinary system disorder | 0.488 | — | common-variant locus | no MR -> candidate analysis |
| prolapse of female genital organ | 0.488 | — | common-variant locus | no MR -> candidate analysis |
| urethral disorder | 0.488 | — | common-variant locus | no MR -> candidate analysis |
| hypertrophic cardiomyopathy | 0.46 | — | common-variant locus | no MR -> candidate analysis |
| Genu varum | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| Genu valgum | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.407 | — | common-variant locus | no MR -> candidate analysis |
| kidney disorder | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.058 | — | common-variant locus | no MR -> candidate analysis |
| metabolic disease | 0.055 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 11 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=2.1e-13, LOEUF=1.16 — LoF-tolerant |
| GWAS Catalog | 68 unique SNPs / 136 rows |
| ClinVar | 108 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 137 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 ‘PCOLCE2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 108 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 21 traits by best p-value, aggregated from 30 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/Q9UKZ9 — 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/ENSG00000163710/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/PCOLCE2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PCOLCE2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PCOLCE2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PCOLCE2 — GWAS Catalog search API (live; release not exposed)