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 |
|---|---|---|---|---|---|---|---|
| Weight | -0.0119 | 0.00225 | 1.17e-07 | Wald ratio | 1 | cis | 0.8 |
| Height | -0.011 | 0.00357 | 0.00209 | Wald ratio | 1 | cis | NA |
| Birth weight | -0.0123 | 0.00402 | 0.00215 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.00603 | 0.00209 | 0.00395 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.00722 | 0.00255 | 0.00466 | Wald ratio | 1 | cis | NA |
| Hip osteoarthritis | -0.0762 | 0.0305 | 0.0123 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.0492 | 0.0198 | 0.0127 | Wald ratio | 1 | cis | NA |
| PGC cross-disorder traits | 0.0315 | 0.013 | 0.0154 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | 0.0231 | 0.0102 | 0.0244 | Wald ratio | 1 | cis | NA |
| Age at menopause | 0.0823 | 0.0366 | 0.0244 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0283 | 0.0126 | 0.0251 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.00761 | 0.00377 | 0.0434 | Wald ratio | 1 | cis | NA |
| …and 114 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
45 association rows across 29 traits (45 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 |
|---|---|---|---|---|---|
| Cysteine-rich with EGF-like domain protein 1 levels | 2e-1815 | rs7650290 | 4 | GCST90247154 | no MR -> candidate analysis |
| Cysteine-rich with EGF-like domain protein 1 levels (CRELD1. | 2e-556 | rs7627326 | 2 | GCST90240843 | no MR -> candidate analysis |
| Serum levels of protein CRELD1 | 4e-267 | rs2270894 | 1 | GCST90089777 | no MR -> candidate analysis |
| height (mean, inv-normal transformed) | 5e-157 | rs2270894 | 2 | GCST90475362 | no MR -> candidate analysis |
| Height (maximum, inv-normal transformed) | 3e-148 | rs2270894 | 2 | GCST90475359 | no MR -> candidate analysis |
| height (minimum, inv-normal transformed) | 2e-126 | rs2270894 | 2 | GCST90475365 | no MR -> candidate analysis |
| Cysteine-rich with EGF-like domain protein 1 level in Chroni | 7e-94 | rs73118372 | 1 | GCST90238582 | no MR -> candidate analysis |
| Height | 2e-85 | rs2270894 | 7 | GCST90662911 | MR: beta=-0.011, p=0.00209 (cis) |
| What is your height? (cm, inv-normal transformed) | 4e-78 | rs2270894 | 2 | GCST90475368 | no MR -> candidate analysis |
| Height (baseline) | 2e-60 | rs2270894 | 1 | GCST90565843 | no MR -> candidate analysis |
| Appendicular lean mass | 1e-42 | rs2270894 | 1 | GCST90000025 | no MR -> candidate analysis |
| Weight (mean, inv-normal transformed) | 5e-40 | rs2270894 | 2 | GCST90476463 | no MR -> candidate analysis |
| …and 17 more traits (see JSON) |
Top diseases by Open Targets association (of 85 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 |
|---|---|---|---|---|
| Jeffries-Lakhani neurodevelopmental syndrome | 0.761 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.799 | — | established (curated) | no MR -> candidate analysis |
| ventricular septal defect 1 | 0.684 | — | established (curated) | no MR -> candidate analysis |
| congenital heart defects, multiple types, 4 | 0.684 | — | established (curated) | no MR -> candidate analysis |
| congenital heart disease | 0.195 | — | established (curated) | no MR -> candidate analysis |
| Tetralogy of Fallot | 0.195 | — | established (curated) | no MR -> candidate analysis |
| small cell lung carcinoma | 0.05 | — | 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=8.6e-11, LOEUF=0.934 — LoF-tolerant |
| GWAS Catalog | 62 unique SNPs / 124 rows |
| ClinVar | 313 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 85 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 ‘CRELD1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 313 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 29 traits by best p-value, aggregated from 45 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/Q96HD1 — 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/ENSG00000163703/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CRELD1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CRELD1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CRELD1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CRELD1 — GWAS Catalog search API (live; release not exposed)