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 |
|---|---|---|---|---|---|---|---|
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.262 | 0.0667 | 8.66e-05 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.391 | 0.109 | 3.24e-04 | Wald ratio | 1 | cis | NA |
| Weight | -0.0416 | 0.0134 | 0.00196 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | -0.0382 | 0.0145 | 0.00867 | Wald ratio | 1 | cis | NA |
| HbA1C | 0.0494 | 0.019 | 0.00932 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | -0.126 | 0.0499 | 0.0115 | Wald ratio | 1 | cis | NA |
| Femoral neck bone mineral density | -0.101 | 0.0431 | 0.0194 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0787 | 0.0374 | 0.0356 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoarthritis | -0.118 | 0.0575 | 0.0394 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.26 | 0.127 | 0.0403 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.031 | 0.0152 | 0.0412 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | -0.146 | 0.0728 | 0.0451 | Wald ratio | 1 | cis | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
17 association rows across 14 traits (15 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 |
|---|---|---|---|---|---|
| Neuferricin levels | 7e-156 | rs118123280 | 3 | GCST90248654 | no MR -> candidate analysis |
| Protein disulfide-isomerase A4 (analyte X7146.5) levels | 5e-27 | rs117969979 | 1 | GCST90426941 | no MR -> candidate analysis |
| Protein disulfide-isomerase A4 levels | 1e-21 | rs118123280 | 1 | GCST90248918 | no MR -> candidate analysis |
| Serum levels of protein CYB5D2 | 3e-21 | rs77246175 | 1 | GCST90086501 | no MR -> candidate analysis |
| Hemoglobin A1c (HbA1c, maximum, inv-norm transformed) | 1e-15 | rs12940450 | 1 | GCST90479500 | no MR -> candidate analysis |
| Protein disulfide-isomerase A4 (analyte X7146.16) levels | 8e-15 | rs118123280 | 1 | GCST90426940 | no MR -> candidate analysis |
| Blood protein levels | 2e-13 | rs77246175 | 1 | GCST006585 | no MR -> candidate analysis |
| Diastolic blood pressure | 3e-11 | rs12943517 | 1 | GCST007268 | no MR -> candidate analysis |
| Hematocrit | 6e-11 | rs8078296 | 1 | GCST90002308 | no MR -> candidate analysis |
| Medication use (agents acting on the renin-angiotensin syste | 9e-10 | rs12940450 | 1 | GCST90018988 | no MR -> candidate analysis |
| Total cholesterol levels | 6e-9 | rs2278524 | 1 | GCST90662895 | no MR -> candidate analysis |
| Height | 8e-9 | rs7219437 | 1 | GCST90018959 | MR: beta=-0.0251, p=0.125 (cis) |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 63 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 |
|---|---|---|---|---|
| type 2 diabetes mellitus | 0.118 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.109 | — | common-variant locus | no MR -> candidate analysis |
| Pancreatic pseudocyst | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| hypertensive disorder | 0.08 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.066 | — | common-variant locus | MR: beta=-0.226, p=0.23 (cis) |
| Increased blood pressure | 0.066 | — | common-variant locus | no MR -> candidate analysis |
| diabetic neuropathy | 0.066 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.055 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of refraction | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| upper respiratory tract disorder | 0.049 | — | common-variant locus | no MR -> candidate analysis |
| diabetic retinopathy | 0.048 | — | common-variant locus | no MR -> candidate analysis |
| anorexia nervosa | 0.043 | — | common-variant locus | no MR -> candidate analysis |
| metabolic syndrome | 0.04 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.031 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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=1.2e-08, LOEUF=1.43 — LoF-tolerant |
| GWAS Catalog | 62 unique SNPs / 120 rows |
| ClinVar | 116 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 63 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 ‘CYB5D2’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 116 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 14 of 14 traits by best p-value, aggregated from 17 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/Q8WUJ1 — 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/ENSG00000167740/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CYB5D2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CYB5D2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CYB5D2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CYB5D2 — GWAS Catalog search API (live; release not exposed)