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 |
|---|---|---|---|---|---|---|---|
| Hirschsprung’s disease | 4.65 | 0.777 | 2.08e-09 | Wald ratio | 1 | cis | 0.911 |
| Height | -0.0663 | 0.0163 | 4.85e-05 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | 0.203 | 0.0651 | 0.00178 | Wald ratio | 1 | cis | NA |
| Mean cell volume | 0.426 | 0.144 | 0.00314 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | 0.129 | 0.0498 | 0.00948 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | 0.191 | 0.0739 | 0.00964 | Wald ratio | 1 | cis | NA |
| Potassium in urine | -0.0333 | 0.0139 | 0.0169 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | 0.133 | 0.0561 | 0.0181 | Wald ratio | 1 | cis | NA |
| Ischemic stroke | -0.211 | 0.0918 | 0.0214 | Wald ratio | 1 | cis | NA |
| Diastolic blood pressure automated reading | 0.0317 | 0.0141 | 0.024 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | 0.0933 | 0.0419 | 0.0261 | Wald ratio | 1 | cis | NA |
| Eczema | 0.229 | 0.103 | 0.0261 | Wald ratio | 1 | cis | NA |
| …and 113 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
25 association rows across 24 traits (23 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 |
|---|---|---|---|---|---|
| Serum levels of protein CSGALNACT2 | 2e-105 | rs3004212 | 1 | GCST90086445 | no MR -> candidate analysis |
| Height | 4e-74 | rs2435381 | 2 | GCST90245848 | MR: beta=-0.0663, p=4.85e-05 (cis) |
| Circulating VCAN levels | 8e-65 | rs2435381 | 1 | GCST90860401 | no MR -> candidate analysis |
| VCAN protein levels | 2e-58 | rs2435381 | 1 | GCST90471032 | no MR -> candidate analysis |
| Blood protein levels | 6e-57 | rs2435378 | 1 | GCST006585 | no MR -> candidate analysis |
| Chondroitin sulfate N-acetylgalactosaminyltransferase 2 leve | 2e-34 | rs2435340 | 1 | GCST90246999 | no MR -> candidate analysis |
| RET protein levels | 5e-26 | rs146003857 | 1 | GCST90470458 | no MR -> candidate analysis |
| Corneal resistance factor (MTAG) | 1e-16 | rs3004212 | 1 | GCST90102517 | no MR -> candidate analysis |
| SPOCK1 protein levels | 8e-16 | rs2435349 | 1 | GCST90470730 | no MR -> candidate analysis |
| Impedance of arm left (UKB data field 23110) | 1e-15 | rs2435381 | 1 | GCST90468171 | no MR -> candidate analysis |
| Circulating SPOCK1 levels | 1e-15 | rs2435381 | 1 | GCST90859729 | no MR -> candidate analysis |
| Impedance of arm right (UKB data field 23109) | 3e-15 | rs2435381 | 1 | GCST90468172 | no MR -> candidate analysis |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 69 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 |
|---|---|---|---|---|
| Abnormality of the skeletal system | 0.871 | — | common-variant locus | no MR -> candidate analysis |
| Inguinal hernia | 0.807 | — | common-variant locus | MR: beta=-0.186, p=0.0696 (cis) |
| tenosynovitis | 0.526 | — | common-variant locus | no MR -> candidate analysis |
| Hirschsprung disease | 0.446 | — | common-variant locus | no MR -> candidate analysis |
| gram-positive bacterial infections | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| insomnia | 0.162 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal pupillary function | 0.11 | — | common-variant locus | no MR -> candidate analysis |
| Hernia | 0.076 | — | common-variant locus | MR: beta=-0.186, p=0.0696 (cis) |
| obesity disorder | 0.046 | — | common-variant locus | no MR -> candidate analysis |
| corneal neovascularization | 0.036 | — | common-variant locus | no MR -> candidate analysis |
| gastric ulcer | 0.034 | — | common-variant locus | no MR -> candidate analysis |
Of the 11 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=1.1e-07, LOEUF=0.839 — LoF-tolerant |
| GWAS Catalog | 55 unique SNPs / 110 rows |
| ClinVar | 109 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 69 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 ‘CSGALNACT2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 109 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 24 traits by best p-value, aggregated from 25 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/Q8N6G5 — 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/ENSG00000169826/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CSGALNACT2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CSGALNACT2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CSGALNACT2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CSGALNACT2 — GWAS Catalog search API (live; release not exposed)