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 | 0.0842 | 0.0216 | 9.52e-05 | Wald ratio | 1 | cis | NA |
| Systolic blood pressure automated reading | -0.0687 | 0.0183 | 1.74e-04 | Wald ratio | 1 | cis | NA |
| Weight | 0.0484 | 0.0158 | 0.00216 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.0449 | 0.0146 | 0.00219 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: H25 Senile cataract | 0.385 | 0.142 | 0.00668 | Wald ratio | 1 | cis | NA |
| Potassium in urine | 0.0488 | 0.0181 | 0.00716 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: L03 Cellulitis | 0.376 | 0.14 | 0.00725 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: ankylosing spondylitis | 0.544 | 0.207 | 0.00854 | Wald ratio | 1 | cis | NA |
| Glioma | 0.84 | 0.32 | 0.00863 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | -0.255 | 0.0994 | 0.0104 | Wald ratio | 1 | cis | NA |
| Neuroblastoma | 0.844 | 0.339 | 0.0128 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | 0.429 | 0.173 | 0.0132 | Wald ratio | 1 | cis | NA |
| …and 116 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
23 association rows across 20 traits (22 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 |
|---|---|---|---|---|---|
| Height | 7e-95 | rs550510 | 2 | GCST90245848 | MR: beta=0.0842, p=9.52e-05 (cis) |
| Calcium-binding and coiled-coil domain-containing protein 2 | 8e-17 | rs550510 | 2 | GCST90246799 | no MR -> candidate analysis |
| Height (baseline) | 1e-16 | rs78270829 | 2 | GCST90565843 | no MR -> candidate analysis |
| CALCOCO2 protein levels | 1e-16 | rs606911 | 1 | GCST90468531 | no MR -> candidate analysis |
| Liver enzyme levels (alkaline phosphatase) | 2e-14 | rs550510 | 1 | GCST90013406 | no MR -> candidate analysis |
| Physical function (baseline) | 3e-14 | rs78270829 | 1 | GCST90565837 | no MR -> candidate analysis |
| Whole body water mass (UKB data field 23102) | 6e-14 | rs78270829 | 1 | GCST90468184 | no MR -> candidate analysis |
| Serum levels of protein CALCOCO2 | 2e-13 | rs550510 | 1 | GCST90087053 | no MR -> candidate analysis |
| Body mass index | 2e-13 | rs534840 | 1 | GCST009871 | MR: beta=0.0143, p=0.423 (cis) |
| Impedance of whole body (UKB data field 23106) | 3e-13 | rs318102 | 1 | GCST90468173 | no MR -> candidate analysis |
| Basal metabolic rate (UKB data field 23105) | 3e-12 | rs78270829 | 1 | GCST90468159 | no MR -> candidate analysis |
| Serum alkaline phosphatase levels | 3e-11 | rs550510 | 1 | GCST90011900 | no MR -> candidate analysis |
| …and 8 more traits (see JSON) |
Top diseases by Open Targets association (of 281 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 | 0.622 | — | common-variant locus | no MR -> candidate analysis |
| chronic kidney disease | 0.417 | — | common-variant locus | MR: beta=-0.195, p=0.0781 (cis) |
| dementia | 0.29 | — | common-variant locus | no MR -> candidate analysis |
| hypothyroidism | 0.271 | — | common-variant locus | no MR -> candidate analysis |
| ptosis | 0.242 | — | common-variant locus | no MR -> candidate analysis |
| prostate carcinoma | 0.2 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.163 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.13 | — | common-variant locus | no MR -> candidate analysis |
| schizophrenia | 0.123 | — | common-variant locus | MR: beta=-0.177, p=0.0205 (cis) |
| metabolic disease | 0.102 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.102 | — | common-variant locus | no MR -> candidate analysis |
| kidney failure | 0.095 | — | common-variant locus | no MR -> candidate analysis |
| diabetic eye disease | 0.094 | — | common-variant locus | no MR -> candidate analysis |
Of the 13 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 | 0 known modulators (Calcium-binding and coiled-coil domain-containing protein 2) |
| gnomAD constraint | pLI=7.4e-10, LOEUF=0.87 — LoF-tolerant |
| GWAS Catalog | 99 unique SNPs / 192 rows |
| ClinVar | 81 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 281 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘CALCOCO2’ and resolved to ‘Calcium-binding and coiled-coil domain-containing protein 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 81 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 23 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/Q13137 — 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/ENSG00000136436/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6066361/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/CALCOCO2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CALCOCO2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CALCOCO2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CALCOCO2 — GWAS Catalog search API (live; release not exposed)