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 |
|---|---|---|---|---|---|---|---|
| Urate | -0.0926 | 0.0296 | 0.00178 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: joint disorder | 0.379 | 0.131 | 0.00374 | Wald ratio | 1 | cis | NA |
| Pancreatic cancer | -0.709 | 0.26 | 0.00643 | Wald ratio | 1 | cis | NA |
| Height | 0.037 | 0.0159 | 0.02 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0285 | 0.0128 | 0.026 | Wald ratio | 1 | cis | NA |
| Invasive mucinous ovarian cancer | 0.456 | 0.206 | 0.027 | Wald ratio | 1 | cis | NA |
| Neo-conscientiousness | -0.874 | 0.409 | 0.0324 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: H25 Senile cataract | 0.246 | 0.116 | 0.0339 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | -0.373 | 0.182 | 0.0407 | Wald ratio | 1 | cis | NA |
| Weight | -0.0229 | 0.0113 | 0.043 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | 0.261 | 0.131 | 0.0472 | Wald ratio | 1 | cis | NA |
| Pallidum volume | -19.9 | 10.2 | 0.0516 | Wald ratio | 1 | cis | NA |
| …and 97 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
59 association rows across 44 traits (39 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 |
|---|---|---|---|---|---|
| Height | 3e-67 | rs139027 | 9 | GCST90245848 | MR: beta=0.037, p=0.02 (cis) |
| Signal peptide, CUB and EGF-like domain-containing protein 1 | 7e-42 | rs5759269 | 4 | GCST90427586 | no MR -> candidate analysis |
| DNAJB1 protein levels | 8e-33 | rs9612021 | 1 | GCST90469012 | no MR -> candidate analysis |
| Serum levels of protein SCUBE1 | 1e-22 | rs2859441 | 1 | GCST90090430 | no MR -> candidate analysis |
| Circulating DNAJB1 levels | 3e-21 | rs138969 | 1 | GCST90860533 | no MR -> candidate analysis |
| Vertex-wise sulcal depth | 3e-16 | rs2015868 | 1 | GCST90095129 | no MR -> candidate analysis |
| Cortical surface area | 1e-15 | rs5996329 | 1 | GCST90091060 | no MR -> candidate analysis |
| Standing height (UKB data field 50) | 3e-14 | rs139030 | 1 | GCST90468178 | no MR -> candidate analysis |
| Blood protein levels | 4e-14 | rs2744874 | 1 | GCST006585 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 5e-14 | rs113166111 | 1 | GCST90468087 | no MR -> candidate analysis |
| Vertex-wise cortical surface area | 4e-13 | rs5996329 | 1 | GCST90095130 | no MR -> candidate analysis |
| GLIPR1 protein levels | 1e-12 | rs374680689 | 1 | GCST90469357 | no MR -> candidate analysis |
| …and 32 more traits (see JSON) |
Top diseases by Open Targets association (of 637 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 |
|---|---|---|---|---|
| self-injurious ideation | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| diabetic ketoacidosis | 0.382 | — | common-variant locus | no MR -> candidate analysis |
| corneal degeneration | 0.366 | — | common-variant locus | no MR -> candidate analysis |
| kidney transplant | 0.314 | — | common-variant locus | no MR -> candidate analysis |
| mucositis | 0.297 | — | common-variant locus | no MR -> candidate analysis |
| stomatitis | 0.297 | — | common-variant locus | no MR -> candidate analysis |
| prostate carcinoma | 0.259 | — | common-variant locus | no MR -> candidate analysis |
Of the 7 rows above, 7 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=1.7e-05, LOEUF=0.589 — LoF-tolerant |
| GWAS Catalog | 100 unique SNPs / 200 rows |
| ClinVar | 244 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 637 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 ‘SCUBE1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 244 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 44 traits by best p-value, aggregated from 59 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/Q8IWY4 — 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/ENSG00000159307/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SCUBE1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SCUBE1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SCUBE1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SCUBE1 — GWAS Catalog search API (live; release not exposed)