Protein Dossier — HP (Haptoglobin)
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 |
| Total cholesterol |
-0.0658 |
0.00541 |
4.48e-34 |
Wald ratio |
1 |
cis |
1 |
| LDL cholesterol |
-0.0628 |
0.00564 |
7.76e-29 |
Wald ratio |
1 |
cis |
1 |
| Non-cancer illness code self-reported: high cholesterol |
-0.0737 |
0.0102 |
5.13e-13 |
Wald ratio |
1 |
cis |
0.997 |
| Height |
0.0276 |
0.00437 |
2.69e-10 |
Wald ratio |
1 |
cis |
0.999 |
| Transferrin |
-0.0493 |
0.0146 |
7.51e-04 |
Wald ratio |
1 |
cis |
NA |
| Triglycerides |
-0.017 |
0.00506 |
7.69e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.00959 |
0.00287 |
8.55e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
0.00957 |
0.00303 |
0.0016 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
-0.0759 |
0.0263 |
0.00393 |
Wald ratio |
1 |
cis |
NA |
| HDL cholesterol |
-0.0146 |
0.00518 |
0.00477 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
0.0589 |
0.0236 |
0.0125 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
0.0676 |
0.0274 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| …and 109 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3054_3_2 |
Haptoglobin, Mixed Type |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
302 association rows across 211 traits (296 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 |
| Inhibin beta B chain (mixed) levels |
1e-688 |
rs77303550 |
1 |
GCST90266939 |
no MR -> candidate analysis |
| Haptoglobin levels |
1e-582 |
rs77303550 |
4 |
GCST90247931 |
no MR -> candidate analysis |
| Circulating GALNT2 levels |
3e-372 |
rs12924886 |
2 |
GCST90860544 |
no MR -> candidate analysis |
| Glycoprotein acetyls levels |
3e-358 |
rs77303550 |
3 |
GCST90454488 |
no MR -> candidate analysis |
| SERPIND1 protein levels |
2e-306 |
rs77303550 |
1 |
GCST90470595 |
no MR -> candidate analysis |
| Total cholesterol levels |
1e-293 |
rs77303550 |
13 |
GCST90239673 |
no MR -> candidate analysis |
| Low density lipoprotein cholesterol levels |
2e-248 |
rs77303550 |
6 |
GCST90239655 |
no MR -> candidate analysis |
| Low-density lipoprotein levels |
1e-217 |
rs77303550 |
2 |
GCST90662892 |
no MR -> candidate analysis |
| Blood protein levels |
8e-184 |
rs77303550 |
8 |
GCST006585 |
no MR -> candidate analysis |
| Glycoprotein acetyls levels (UKB data field 23480) |
8e-178 |
rs77303550 |
1 |
GCST90269577 |
no MR -> candidate analysis |
| HPT protein level (protein group normalized intensity) |
3e-168 |
rs8062041 |
1 |
GCST90570716 |
no MR -> candidate analysis |
| Serum levels of protein HP |
6e-159 |
rs12924886 |
2 |
GCST90088210 |
no MR -> candidate analysis |
| …and 199 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1575 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 |
| Hypercholesterolemia |
0.936 |
— |
common-variant locus |
MR: beta=-0.0658, p=4.48e-34 (cis) |
| metabolic disease |
0.896 |
— |
common-variant locus |
no MR -> candidate analysis |
| hyperlipidemia |
0.896 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery disorder |
0.853 |
— |
common-variant locus |
no MR -> candidate analysis |
| metabolic syndrome |
0.798 |
— |
common-variant locus |
no MR -> candidate analysis |
| anhaptoglobinemia |
0.567 |
— |
established (curated) |
no MR -> candidate analysis |
| familial hyperlipidemia |
0.797 |
— |
common-variant locus |
no MR -> candidate analysis |
| response to statin |
0.729 |
— |
common-variant locus |
no MR -> candidate analysis |
| angina pectoris |
0.668 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.656 |
— |
common-variant locus |
no MR -> candidate analysis |
| cardiovascular disorder |
0.585 |
— |
common-variant locus |
no MR -> candidate analysis |
| coronary artery calcification |
0.584 |
— |
common-variant locus |
no MR -> candidate analysis |
| familial hypercholesterolemia |
0.584 |
— |
common-variant locus |
no MR -> candidate analysis |
| Disorder of lipid metabolism |
0.583 |
— |
common-variant locus |
no MR -> candidate analysis |
| physical activity |
0.578 |
— |
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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=0.47, LOEUF=0.677 — LoF-tolerant |
| GWAS Catalog |
162 unique SNPs / 420 rows |
| ClinVar |
130 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1575 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 130 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 211 traits by best p-value, aggregated from 302 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/P00738 — 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/ENSG00000257017/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/HP — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/HP — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=HP%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/HP — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:01:36 · 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: chembl