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 |
|---|---|---|---|---|---|---|---|
| Serum cystatin C (eGFRcys) | -0.0104 | 0.00359 | 0.00379 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: bone disorder | 0.187 | 0.0776 | 0.0158 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | 0.0374 | 0.0169 | 0.0272 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gout | -0.0861 | 0.0399 | 0.0308 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.107 | 0.0501 | 0.0325 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypopituitarism | 0.362 | 0.17 | 0.0335 | Wald ratio | 1 | cis | NA |
| Type 2 diabetes | 0.0371 | 0.0186 | 0.0457 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | -0.112 | 0.0568 | 0.049 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.0786 | 0.0428 | 0.0661 | Wald ratio | 1 | cis | NA |
| Urate | 0.017 | 0.00945 | 0.0719 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | 0.069 | 0.0383 | 0.0719 | Wald ratio | 1 | cis | NA |
| Chronic kidney disease | 0.0492 | 0.0274 | 0.073 | Wald ratio | 1 | cis | NA |
| …and 92 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
2 association rows across 2 traits (2 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 |
|---|---|---|---|---|---|
| Blood protein levels | 2e-210 | rs10038416 | 1 | GCST006585 | no MR -> candidate analysis |
| SPINK6 protein levels | 1e-132 | rs74607481 | 1 | GCST90470725 | no MR -> candidate analysis |
No genetically-associated diseases retrieved from Open Targets.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.2e-05, LOEUF=1.76 — LoF-tolerant |
| GWAS Catalog | 40 unique SNPs / 80 rows |
| ClinVar | 33 records; 10 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 47 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 ‘SPINK6’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 33 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 2 of 2 traits by best p-value, aggregated from 2 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/Q6UWN8 — 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/ENSG00000178172/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SPINK6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SPINK6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SPINK6%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SPINK6 — GWAS Catalog search API (live; release not exposed)