Protein Dossier — CNDP1 (Beta-Ala-His dipeptidase)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Gallbladder cancer |
2.82 |
0.874 |
0.00126 |
Wald ratio |
1 |
cis |
NA |
| Birth weight |
-0.0263 |
0.0109 |
0.0155 |
Wald ratio |
1 |
cis |
NA |
| Invasive mucinous ovarian cancer |
0.275 |
0.123 |
0.0246 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries |
-0.239 |
0.108 |
0.0263 |
Wald ratio |
1 |
cis |
NA |
| Urate |
0.04 |
0.0186 |
0.0313 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level |
0.464 |
0.225 |
0.0391 |
Wald ratio |
1 |
cis |
NA |
| HOMA-IR |
-0.0274 |
0.0134 |
0.0411 |
Wald ratio |
1 |
cis |
NA |
| Pulse rate |
0.0253 |
0.0125 |
0.0435 |
Wald ratio |
1 |
cis |
NA |
| Glioma |
-0.26 |
0.129 |
0.0442 |
Wald ratio |
1 |
cis |
NA |
| Lumbar spine bone mineral density |
-0.0486 |
0.025 |
0.0519 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.0879 |
0.0453 |
0.0523 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
-0.25 |
0.134 |
0.0607 |
Wald ratio |
1 |
cis |
NA |
| …and 91 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3604_6_4 |
CNDP1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
40 association rows across 12 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 |
| Circulating CNDP1 levels |
4e-467 |
rs17817077 |
7 |
GCST90860496 |
no MR -> candidate analysis |
| CNDP1/EGFR protein level ratio |
2e-275 |
rs17238585 |
1 |
GCST90314146 |
no MR -> candidate analysis |
| CNDP1 protein levels |
1e-211 |
rs4329999 |
8 |
GCST90468796 |
no MR -> candidate analysis |
| Beta-Ala-His dipeptidase levels |
4e-145 |
rs17817077 |
10 |
GCST90246651 |
no MR -> candidate analysis |
| Serum levels of protein CNDP1 |
2e-69 |
rs17817077 |
4 |
GCST90089039 |
no MR -> candidate analysis |
| Beta-Ala-His dipeptidase (analyte X7870.8) levels |
7e-34 |
rs58692747 |
1 |
GCST90427120 |
no MR -> candidate analysis |
| Blood protein levels |
1e-28 |
rs62099911 |
2 |
GCST006585 |
no MR -> candidate analysis |
| Cerebrospinal fluid homocarnosine levels |
1e-19 |
rs56042934 |
3 |
GCST90318245 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CNDP1 levels |
2e-17 |
rs4329999 |
1 |
GCST90944972 |
no MR -> candidate analysis |
| Beta-Ala-His dipeptidase (analyte X5456.59) levels |
1e-15 |
rs58692747 |
1 |
GCST90426351 |
no MR -> candidate analysis |
| Urine carnosine levels in chronic kidney disease |
1e-12 |
rs17089382 |
1 |
GCST90264901 |
no MR -> candidate analysis |
| Neovascular age-related macular degeneration |
1e-5 |
rs9965945 |
1 |
GCST90860786 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 167 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 |
| response to antihypertensive drug |
0.421 |
— |
common-variant locus |
no MR -> candidate analysis |
| multiple sclerosis |
0.338 |
— |
common-variant locus |
no MR -> candidate analysis |
| myopia |
0.059 |
— |
common-variant locus |
no MR -> candidate analysis |
| stroke disorder |
0.058 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.058 |
— |
common-variant locus |
no MR -> candidate analysis |
| Retinal hemorrhage |
0.045 |
— |
common-variant locus |
no MR -> candidate analysis |
| duodenal ulcer |
0.035 |
— |
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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=6.8e-12, LOEUF=0.974 — LoF-tolerant |
| GWAS Catalog |
87 unique SNPs / 174 rows |
| ClinVar |
276 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 167 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 ‘CNDP1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 276 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 12 of 12 traits by best p-value, aggregated from 40 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q96KN2 — 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/ENSG00000150656/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CNDP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CNDP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CNDP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CNDP1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:54:39 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none