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 |
|---|---|---|---|---|---|---|---|
| Eye problems or disorders: Injury or trauma resulting in loss of vision | 0.326 | 0.11 | 0.00303 | Wald ratio | 1 | cis | NA |
| Mean platelet volume | 0.0132 | 0.0052 | 0.0109 | Wald ratio | 1 | cis | NA |
| Height | 0.034 | 0.0142 | 0.0164 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.285 | 0.12 | 0.0173 | Wald ratio | 1 | cis | NA |
| Ischemic stroke | -0.186 | 0.0789 | 0.0186 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M54 Dorsalgia | -0.276 | 0.12 | 0.0214 | Wald ratio | 1 | cis | NA |
| Weight | 0.0224 | 0.0102 | 0.0275 | Wald ratio | 1 | cis | NA |
| Lung adenocarcinoma | 0.297 | 0.139 | 0.0326 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Arm | 0.203 | 0.0957 | 0.0342 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: retinal detachment | 0.313 | 0.151 | 0.0382 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.188 | 0.0912 | 0.0387 | Wald ratio | 1 | cis | NA |
| Years of schooling | 0.0378 | 0.0189 | 0.0455 | Wald ratio | 1 | cis | NA |
| …and 91 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
98 association rows across 56 traits (84 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 |
|---|---|---|---|---|---|
| Collagen alpha-1(VI) chain levels | 5e-5385 | rs13053065 | 2 | GCST90247085 | no MR -> candidate analysis |
| Collagen alpha-1(VI) chain (analyte X16828.8) levels | 3e-457 | rs1053312 | 1 | GCST90422875 | no MR -> candidate analysis |
| Collagen alpha-1(VI) chain level in Chronic kidney disease w | 8e-181 | rs1053312 | 1 | GCST90234582 | no MR -> candidate analysis |
| Height | 1e-130 | rs8130733 | 6 | GCST90245848 | MR: beta=0.034, p=0.0164 (cis) |
| Corneal resistance factor | 1e-101 | rs142493024 | 9 | GCST011390 | no MR -> candidate analysis |
| Corneal resistance factor (MTAG) | 1e-99 | rs142493024 | 4 | GCST90102517 | no MR -> candidate analysis |
| Corneal hysteresis | 8e-98 | rs142493024 | 2 | GCST011391 | no MR -> candidate analysis |
| Central corneal thickness (MTAG) | 4e-73 | rs142493024 | 3 | GCST90102518 | no MR -> candidate analysis |
| Serum levels of protein COL6A1 | 5e-61 | rs2150458 | 2 | GCST90086571 | no MR -> candidate analysis |
| Protein kinase C and casein kinase substrate in neurons prot | 5e-49 | rs1053315 | 1 | GCST90439307 | no MR -> candidate analysis |
| Corneal curvature | 2e-40 | rs13050142 | 3 | GCST90012795 | no MR -> candidate analysis |
| Valine–tRNA ligase levels | 2e-38 | rs13051496 | 1 | GCST90422069 | no MR -> candidate analysis |
| …and 44 more traits (see JSON) |
Top diseases by Open Targets association (of 823 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 |
|---|---|---|---|---|
| Bethlem myopathy 1A | 0.947 | — | established (curated) | no MR -> candidate analysis |
| Ullrich congenital muscular dystrophy 1A | 0.916 | — | established (curated) | no MR -> candidate analysis |
| Bethlem myopathy | 0.878 | — | established (curated) | no MR -> candidate analysis |
| Congenital muscular dystrophy, Ullrich type | 0.863 | — | established (curated) | no MR -> candidate analysis |
| collagen 6-related myopathy | 0.837 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.817 | — | established (curated) | no MR -> candidate analysis |
| diverticular disease | 0.803 | — | common-variant locus | MR: beta=-0.188, p=0.16 (cis) |
| Abnormality of the musculature | 0.761 | — | established (curated) | no MR -> candidate analysis |
| myopathy | 0.559 | — | established (curated) | no MR -> candidate analysis |
| Ullrich congenital muscular dystrophy | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Sensorimotor neuropathy | 0.559 | — | established (curated) | no MR -> candidate analysis |
| glaucoma | 0.54 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| intestinal disorder | 0.472 | — | common-variant locus | no MR -> candidate analysis |
| response to stimulus | 0.465 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 | 2 known modulators (Collagen) |
| gnomAD constraint | pLI=4.4e-12, LOEUF=0.662 — LoF-tolerant |
| GWAS Catalog | 75 unique SNPs / 139 rows |
| ClinVar | 2252 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 823 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 ‘COL6A1’ and resolved to ‘Collagen’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 2252 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 56 traits by best p-value, aggregated from 98 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/P12109 — 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/ENSG00000142156/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2364188/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/COL6A1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/COL6A1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=COL6A1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/COL6A1 — GWAS Catalog search API (live; release not exposed)