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: Glaucoma | -0.28 | 0.0949 | 0.00321 | Wald ratio | 1 | cis | NA |
| Birth weight | 0.0372 | 0.0131 | 0.00451 | Wald ratio | 1 | cis | NA |
| Eczema | 0.193 | 0.071 | 0.00666 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.15 | 0.0594 | 0.0114 | Wald ratio | 1 | cis | NA |
| Body fat | -0.491 | 0.216 | 0.0231 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: anxiety or panic attacks | 0.136 | 0.0639 | 0.0332 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | 0.066 | 0.0318 | 0.0378 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0635 | 0.0306 | 0.0382 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.132 | 0.0644 | 0.0408 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R35 Polyuria | 0.215 | 0.111 | 0.0527 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: iron deficiency anaemia | -0.292 | 0.16 | 0.068 | Wald ratio | 1 | cis | NA |
| Primary sclerosing cholangitis | -0.243 | 0.135 | 0.0715 | Wald ratio | 1 | cis | NA |
| …and 62 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
22 association rows across 18 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 |
|---|---|---|---|---|---|
| DnaJ homolog subfamily C member 30 levels | 3e-155 | rs113428756 | 1 | GCST90427118 | no MR -> candidate analysis |
| Triglyceride levels | 9e-56 | rs13242693 | 2 | GCST90019523 | no MR -> candidate analysis |
| Height | 4e-45 | rs8891 | 1 | GCST90245848 | no MR -> candidate analysis |
| Drinks per week | 4e-19 | rs13243804 | 1 | GCST90243989 | no MR -> candidate analysis |
| DnaJ homolog subfamily C member 30 level in Chronic kidney d | 2e-17 | rs113239638 | 1 | GCST90238677 | no MR -> candidate analysis |
| Polyunsaturated fatty acids to monounsaturated fatty acids r | 9e-17 | rs1128349 | 1 | GCST90502566 | no MR -> candidate analysis |
| Gamma glutamyl transferase levels | 2e-16 | rs13242693 | 1 | GCST90019507 | no MR -> candidate analysis |
| Low-density lipoprotein levels (MTAG) | 7e-16 | rs1128349 | 1 | GCST90179148 | no MR -> candidate analysis |
| Monounsaturated fatty acid levels | 7e-16 | rs13243804 | 2 | GCST90502358 | no MR -> candidate analysis |
| Omega-6 fatty acids to total fatty acids percentage | 1e-13 | rs8891 | 2 | GCST90502528 | no MR -> candidate analysis |
| Aspartate aminotransferase to alanine aminotransferase ratio | 1e-12 | rs13242693 | 1 | GCST90019498 | no MR -> candidate analysis |
| Polyunsaturated fatty acids to total fatty acids percentage | 3e-11 | rs8891 | 2 | GCST90502632 | no MR -> candidate analysis |
| …and 6 more traits (see JSON) |
Top diseases by Open Targets association (of 90 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 |
|---|---|---|---|---|
| Leber-like hereditary optic neuropathy, autosomal recessive 1 | 0.853 | — | established (curated) | no MR -> candidate analysis |
| Leber hereditary optic neuropathy | 0.598 | — | established (curated) | no MR -> candidate analysis |
| Leber hereditary optic neuropathy, autosomal recessive | 0.687 | — | established (curated) | no MR -> candidate analysis |
| optic atrophy | 0.666 | — | established (curated) | no MR -> candidate analysis |
| Retinal dystrophy | 0.605 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.082 | — | common-variant locus | no MR -> candidate analysis |
| gout | 0.082 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.082 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.046 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 rows above, 9 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=1.9e-06, LOEUF=1.58 — LoF-tolerant |
| GWAS Catalog | 144 unique SNPs / 338 rows |
| ClinVar | 225 records; 9 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 90 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 ‘DNAJC30’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 225 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 18 of 18 traits by best p-value, aggregated from 22 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/Q96LL9 — 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/ENSG00000176410/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/DNAJC30 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DNAJC30 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DNAJC30%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DNAJC30 — GWAS Catalog search API (live; release not exposed)