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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: K43 Ventral hernia | 0.377 | 0.142 | 0.00779 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | 0.205 | 0.0788 | 0.0094 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: L03 Cellulitis | 0.288 | 0.114 | 0.0117 | Wald ratio | 1 | cis | NA |
| Fractured or broken bones in last 5 years | 0.0901 | 0.0384 | 0.0191 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | 0.247 | 0.111 | 0.0265 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | 0.176 | 0.0866 | 0.0415 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.187 | 0.0943 | 0.0478 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | 0.0685 | 0.0352 | 0.052 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: ankylosing spondylitis | 0.341 | 0.189 | 0.071 | Wald ratio | 1 | cis | NA |
| Percent emphysema | -0.0875 | 0.0491 | 0.0746 | Wald ratio | 1 | cis | NA |
| Fasting insulin | 0.0973 | 0.0556 | 0.0801 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | 0.129 | 0.0743 | 0.0822 | Wald ratio | 1 | cis | NA |
| …and 57 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
9 association rows across 5 traits (8 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 |
|---|---|---|---|---|---|
| DSC2 protein levels | 4e-265 | rs71175758 | 3 | GCST90469040 | no MR -> candidate analysis |
| Circulating DSC2 levels | 2e-116 | rs10084050 | 1 | GCST90860596 | no MR -> candidate analysis |
| Desmocollin-2 levels | 2e-36 | rs1790683 | 3 | GCST90422097 | no MR -> candidate analysis |
| Desmocollin-2 levels (DSC2.13126.52.3) | 2e-13 | rs1789063 | 1 | GCST90240894 | no MR -> candidate analysis |
| Bronchopulmonary dysplasia | 7e-6 | rs1126214 | 1 | GCST002104 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 950 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 |
|---|---|---|---|---|
| Arrhythmogenic right ventricular dysplasia | 0.762 | — | established (curated) | no MR -> candidate analysis |
| familial isolated arrhythmogenic right ventricular dysplasia | 0.943 | — | established (curated) | no MR -> candidate analysis |
| arrhythmogenic right ventricular cardiomyopathy | 0.836 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the cardiovascular system | 0.924 | — | established (curated) | no MR -> candidate analysis |
| atrial fibrillation | 0.667 | — | common-variant locus | no MR -> candidate analysis |
| cardiomyopathy | 0.63 | — | established (curated) | no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, right dominant form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, biventricular form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| familial isolated arrhythmogenic ventricular dysplasia, left dominant form | 0.608 | — | established (curated) | no MR -> candidate analysis |
| dilated cardiomyopathy 1A | 0.486 | — | established (curated) | no MR -> candidate analysis |
| arrhythmogenic right ventricular dysplasia 1 | 0.486 | — | established (curated) | no MR -> candidate analysis |
| dilated cardiomyopathy | 0.285 | — | established (curated) | no MR -> candidate analysis |
| Prolonged QT interval | 0.263 | — | established (curated) | no MR -> candidate analysis |
| cardiac arrhythmia | 0.243 | — | established (curated) | no MR -> candidate analysis |
| familial hypertrophic cardiomyopathy | 0.243 | — | established (curated) | 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=3.4e-09, LOEUF=0.735 — LoF-tolerant |
| GWAS Catalog | 29 unique SNPs / 58 rows |
| ClinVar | 2161 records; 8 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 950 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 ‘DSC2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 2161 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 5 of 5 traits by best p-value, aggregated from 9 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/Q02487 — 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/ENSG00000134755/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/DSC2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/DSC2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=DSC2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/DSC2 — GWAS Catalog search API (live; release not exposed)