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 |
|---|---|---|---|---|---|---|---|
| Cancer code self-reported: basal cell carcinoma | 0.088 | 0.0291 | 0.00251 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: bone disorder | 0.155 | 0.0558 | 0.0054 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: J33 Nasal polyp | -0.142 | 0.0511 | 0.00554 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.0622 | 0.0233 | 0.00768 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K35 Acute appendicitis | -0.118 | 0.0493 | 0.017 | Wald ratio | 1 | trans | NA |
| Birth weight | -0.0113 | 0.00485 | 0.0201 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee | -0.0467 | 0.0215 | 0.0296 | Wald ratio | 1 | trans | NA |
| Ischemic stroke | 0.0552 | 0.0255 | 0.0303 | Wald ratio | 1 | trans | NA |
| Ferritin | 0.0248 | 0.0135 | 0.0661 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K57 Diverticular disease of intestine | 0.0378 | 0.0206 | 0.0671 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K80 Cholelithiasis | 0.0373 | 0.0204 | 0.0677 | Wald ratio | 1 | trans | NA |
| Diastolic blood pressure automated reading | 0.00559 | 0.00312 | 0.073 | Wald ratio | 1 | trans | NA |
| …and 87 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
49 association rows across 25 traits (25 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 | 1e-56 | rs6132147 | 3 | GCST90245848 | MR: beta=0.00679, p=0.203 (trans) |
| Pulse pressure | 4e-18 | rs17812022 | 2 | GCST90310296 | no MR -> candidate analysis |
| Systolic blood pressure | 2e-13 | rs17812022 | 2 | GCST90310294 | MR: beta=0.00349, p=0.263 (trans) |
| Hip circumference adjusted for BMI | 7e-13 | rs2876517 | 6 | GCST90020028 | no MR -> candidate analysis |
| Systolic blood pressure (MTAG) | 9e-11 | rs17812022 | 1 | GCST90449056 | no MR -> candidate analysis |
| Hip index | 1e-10 | rs375702194 | 4 | GCST90020026 | no MR -> candidate analysis |
| Sleep (1/3-day periodicity) | 3e-9 | rs149624949 | 1 | GCST012033 | no MR -> candidate analysis |
| Body size or adipose distribution (multivariate analysis) | 9e-9 | rs6136595 | 1 | GCST90624105 | no MR -> candidate analysis |
| Gut microbiome abundance (class Clostridium sensu stricto sp | 2e-8 | rs34392806 | 1 | GCST90569029 | no MR -> candidate analysis |
| C-reactive protein (red blood cell fatty acid level interact | 3e-8 | rs3762220 | 1 | GCST004815 | no MR -> candidate analysis |
| DNA methylation variation (age effect) | 4e-8 | rs117183447 | 1 | GCST006660 | no MR -> candidate analysis |
| Bioavailable testosterone levels | 4e-8 | rs143240517 | 1 | GCST90027085 | no MR -> candidate analysis |
| …and 13 more traits (see JSON) |
Top diseases by Open Targets association (of 22 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 |
|---|---|---|---|---|
| liver disorder | 0.265 | — | common-variant locus | no MR -> candidate analysis |
| pneumonitis | 0.258 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.191 | — | common-variant locus | no MR -> candidate analysis |
| rectosigmoid junction neoplasm | 0.191 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.191 | — | common-variant locus | no MR -> candidate analysis |
| Abnormal central motor function | 0.163 | 0.163 | exploratory rare-variant signal | no MR -> candidate analysis |
| smoking initiation | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| chronic hepatitis | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| hemorrhage | 0.052 | — | common-variant locus | no MR -> candidate analysis |
| gastric ulcer | 0.052 | — | common-variant locus | no MR -> candidate analysis |
| diverticular disease | 0.03 | — | common-variant locus | MR: beta=0.0378, p=0.0671 (trans) |
| intestinal disorder | 0.03 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 11 have no MR estimate in this resource. Across all retrieved diseases for this gene: 1 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=0.0021, LOEUF=1.57 — LoF-tolerant |
| GWAS Catalog | 18 unique SNPs / 36 rows |
| ClinVar | 51 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 22 of 22 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 ‘SCP2D1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 51 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 25 traits by best p-value, aggregated from 49 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/Q9UJQ7 — 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/ENSG00000132631/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SCP2D1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SCP2D1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SCP2D1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SCP2D1 — GWAS Catalog search API (live; release not exposed)