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 |
|---|---|---|---|---|---|---|---|
| Mean cell volume | 0.427 | 0.0951 | 6.98e-06 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | 0.137 | 0.0372 | 2.28e-04 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Cataract | -0.227 | 0.0615 | 2.30e-04 | Wald ratio | 1 | cis | NA |
| Iron | 0.134 | 0.0367 | 2.46e-04 | Wald ratio | 1 | cis | NA |
| Transferrin Saturation | 0.121 | 0.0367 | 9.77e-04 | Wald ratio | 1 | cis | NA |
| Percent emphysema | 0.0906 | 0.0327 | 0.00557 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.163 | 0.0638 | 0.0107 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0295 | 0.0116 | 0.0112 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | 0.152 | 0.0618 | 0.0138 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.219 | 0.0986 | 0.0265 | Wald ratio | 1 | cis | NA |
| Neo-conscientiousness | 0.594 | 0.272 | 0.0289 | Wald ratio | 1 | cis | NA |
| Haemoglobin concentration | 0.0462 | 0.0212 | 0.0296 | Wald ratio | 1 | cis | NA |
| …and 87 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
166 association rows across 85 traits (149 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 |
|---|---|---|---|---|---|
| Circulating SMOC1 levels | 5e-376 | rs55796722 | 4 | GCST90860685 | no MR -> candidate analysis |
| SMOC1 protein levels | 1e-211 | rs227419 | 3 | GCST90470682 | no MR -> candidate analysis |
| Height | 7e-203 | rs1547088 | 16 | GCST90245848 | no MR -> candidate analysis |
| SPARC-related modular calcium-binding protein 1 levels | 1e-116 | rs1958078 | 9 | GCST90249582 | no MR -> candidate analysis |
| Appendicular lean mass | 4e-40 | rs35230100 | 3 | GCST90000025 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 1e-34 | rs1547088 | 1 | GCST90468178 | no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transfor | 6e-34 | rs1958078 | 2 | GCST90475442 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 9e-34 | rs1958078 | 2 | GCST90838669 | no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed | 7e-33 | rs1958078 | 2 | GCST90475446 | no MR -> candidate analysis |
| Mean corpuscular hemoglobin | 1e-32 | rs1958078 | 6 | GCST90002322 | no MR -> candidate analysis |
| SPARC-related modular calcium-binding protein 1 levels (SMOC | 2e-30 | rs1958078 | 2 | GCST90242872 | no MR -> candidate analysis |
| Mean corpuscular haemoglobin (UKB data field 30050) | 2e-30 | rs55796722 | 1 | GCST90468084 | no MR -> candidate analysis |
| …and 73 more traits (see JSON) |
Top diseases by Open Targets association (of 4360 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 |
|---|---|---|---|---|
| microphthalmia with limb anomalies | 0.84 | — | established (curated) | no MR -> candidate analysis |
| atherosclerosis | 0.808 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.8 | — | common-variant locus | no MR -> candidate analysis |
| peripheral vascular disease | 0.794 | — | common-variant locus | no MR -> candidate analysis |
| Intrahepatic cholestasis of pregnancy | 0.739 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.682 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.682 | — | established (curated) | no MR -> candidate analysis |
| hypertensive disorder | 0.55 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.55 | — | common-variant locus | no MR -> candidate analysis |
| self-injurious ideation | 0.527 | — | common-variant locus | no MR -> candidate analysis |
| chronic obstructive pulmonary disease | 0.464 | — | common-variant locus | no MR -> candidate analysis |
| tuberculosis | 0.457 | — | common-variant locus | no MR -> candidate analysis |
| benign neoplasm | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| corneal edema | 0.43 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.424 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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=0.61, LOEUF=0.558 — LoF-tolerant |
| GWAS Catalog | 107 unique SNPs / 224 rows |
| ClinVar | 202 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 4360 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 ‘SMOC1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 202 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 85 traits by best p-value, aggregated from 166 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/Q9H4F8 — 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/ENSG00000198732/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SMOC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SMOC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SMOC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SMOC1 — GWAS Catalog search API (live; release not exposed)