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 |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: depression | 0.0885 | 0.0232 | 1.37e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.0873 | 0.025 | 4.93e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: ankylosing spondylitis | 0.266 | 0.0899 | 0.00309 | Wald ratio | 1 | cis | NA |
| 2hr glucose | 0.127 | 0.0485 | 0.00882 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.057 | 0.0218 | 0.00884 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pneumothorax | 0.482 | 0.194 | 0.0131 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.0675 | 0.0277 | 0.0148 | Wald ratio | 1 | cis | NA |
| Years of schooling | 0.0208 | 0.00923 | 0.0244 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | 0.0218 | 0.0103 | 0.0338 | Wald ratio | 1 | cis | NA |
| Large vessel disease | 0.186 | 0.0905 | 0.0395 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Cataract | 0.0623 | 0.0316 | 0.0485 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | -0.147 | 0.0748 | 0.0496 | Wald ratio | 1 | cis | NA |
| …and 86 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
276 association rows across 161 traits (115 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 |
|---|---|---|---|---|---|
| CNTNAP2/DPP6 protein level ratio | 5e-1518 | rs10952625 | 1 | GCST90314168 | no MR -> candidate analysis |
| Circulating CNTNAP2 levels | 2e-1464 | rs6969500 | 7 | GCST90860176 | no MR -> candidate analysis |
| CD200/CNTNAP2 protein level ratio | 1e-1409 | rs10952625 | 1 | GCST90313747 | no MR -> candidate analysis |
| CNTNAP2/DPP10 protein level ratio | 2e-1350 | rs10952625 | 1 | GCST90314167 | no MR -> candidate analysis |
| Contactin-associated protein-like 2 levels | 1e-393 | rs6969311 | 3 | GCST90247081 | no MR -> candidate analysis |
| Serum levels of protein CNTNAP2 | 2e-222 | rs6979892 | 2 | GCST90089595 | no MR -> candidate analysis |
| CNTNAP2 protein levels | 2e-165 | rs2462603 | 20 | GCST90468808 | no MR -> candidate analysis |
| Bone mineral density mean | 5e-110 | rs141299713 | 5 | GCST90321120 | no MR -> candidate analysis |
| Contactin-associated protein-like 2 levels (CNTNAP2.6965.19. | 1e-60 | rs10274393 | 1 | GCST90240789 | no MR -> candidate analysis |
| Height | 3e-15 | rs12535047 | 3 | GCST90245848 | no MR -> candidate analysis |
| Blood protein levels | 5e-15 | rs6943324 | 1 | GCST006585 | no MR -> candidate analysis |
| Self-reported math ability (MTAG) | 1e-14 | rs34438057 | 1 | GCST006569 | no MR -> candidate analysis |
| …and 149 more traits (see JSON) |
Top diseases by Open Targets association (of 934 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 |
|---|---|---|---|---|
| cortical dysplasia-focal epilepsy syndrome | 0.944 | — | established (curated) | no MR -> candidate analysis |
| Cortical dysplasia - focal epilepsy syndrome | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Pitt-Hopkins-like syndrome | 0.559 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.881 | — | established (curated) | no MR -> candidate analysis |
| Rolandic epilepsy | 0.816 | — | established (curated) | no MR -> candidate analysis |
| self-limited epilepsy with centrotemporal spikes | 0.816 | — | established (curated) | no MR -> candidate analysis |
| alcohol drinking | 0.696 | — | common-variant locus | no MR -> candidate analysis |
| mathematical ability | 0.667 | — | common-variant locus | no MR -> candidate analysis |
| dislocation | 0.621 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.611 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.603 | — | common-variant locus | no MR -> candidate analysis |
| ulcerative colitis | 0.606 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.546 | — | common-variant locus | no MR -> candidate analysis |
| Intellectual disability | 0.527 | — | established (curated) | no MR -> candidate analysis |
| peripheral vascular disease | 0.52 | — | 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=1.3e-19, LOEUF=0.747 — LoF-tolerant |
| GWAS Catalog | 180 unique SNPs / 487 rows |
| ClinVar | 2159 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 934 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 ‘CNTNAP2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 2159 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 161 traits by best p-value, aggregated from 276 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/Q9UHC6 — 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/ENSG00000174469/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNTNAP2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNTNAP2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNTNAP2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNTNAP2 — GWAS Catalog search API (live; release not exposed)