Protein Dossier — KNG1 (Kininogen-1)
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 |
| Serum creatinine (eGFRcrea) |
0.00476 |
0.00102 |
3.44e-06 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K60 Fissure and fistula of anal and rectal regions |
-0.147 |
0.048 |
0.00214 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.0862 |
0.0284 |
0.00244 |
Wald ratio |
1 |
cis |
NA |
| Type 2 diabetes |
0.0357 |
0.0142 |
0.0121 |
Wald ratio |
1 |
cis |
NA |
| Fracture resulting from simple fall |
0.0176 |
0.0073 |
0.0157 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
-0.0556 |
0.024 |
0.0206 |
Wald ratio |
1 |
cis |
NA |
| Fractured or broken bones in last 5 years |
0.0187 |
0.00856 |
0.0292 |
Wald ratio |
1 |
cis |
NA |
| Caudate volume |
-10.9 |
5.58 |
0.0515 |
Wald ratio |
1 |
cis |
NA |
| Neo-openness to experience |
0.146 |
0.0764 |
0.0559 |
Wald ratio |
1 |
cis |
NA |
| Haemoglobin concentration |
0.0136 |
0.00725 |
0.0603 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
-0.0446 |
0.0245 |
0.0682 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter |
-0.0644 |
0.0355 |
0.0697 |
Wald ratio |
1 |
cis |
NA |
| …and 105 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4495_33_2 |
Kininogen, HMW |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
222 association rows across 144 traits (214 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 |
| Blood protein levels |
9e-493 |
rs5030044 |
17 |
GCST006585 |
no MR -> candidate analysis |
| Coagulation Factor XI levels |
2e-352 |
rs710446 |
6 |
GCST90247103 |
no MR -> candidate analysis |
| Plasma kallikrein levels |
7e-345 |
rs710446 |
7 |
GCST90249010 |
no MR -> candidate analysis |
| Fibrinogen levels or factor VII levels or factor XI levels o |
5e-324 |
rs710446 |
1 |
GCST90129560 |
no MR -> candidate analysis |
| Ischemic stroke or factor XI levels (pleiotropy) |
5e-307 |
rs710446 |
1 |
GCST90129552 |
no MR -> candidate analysis |
| Venous thromboembolism or factor XI levels (pleiotropy) |
6e-304 |
rs710446 |
1 |
GCST90129538 |
no MR -> candidate analysis |
| Factor XI |
2e-302 |
rs710446 |
1 |
GCST004124 |
no MR -> candidate analysis |
| Coronary artery disease or factor XI levels (pleiotropy) |
6e-294 |
rs710446 |
1 |
GCST90129545 |
no MR -> candidate analysis |
| Kininogen, HMW, Two Chain levels |
8e-293 |
rs5030062 |
2 |
GCST90247905 |
no MR -> candidate analysis |
| HRG protein levels |
6e-239 |
rs1656908 |
3 |
GCST90469476 |
no MR -> candidate analysis |
| BCL2L11/RAB6A protein level ratio |
7e-236 |
rs5030062 |
1 |
GCST90313484 |
no MR -> candidate analysis |
| Serum levels of protein KNG1 |
5e-227 |
rs266723 |
5 |
GCST90088717 |
no MR -> candidate analysis |
| …and 132 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 796 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 |
| congenital high-molecular-weight kininogen deficiency |
0.795 |
— |
established (curated) |
no MR -> candidate analysis |
| venous thromboembolism |
0.824 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary angioedema |
0.718 |
— |
established (curated) |
no MR -> candidate analysis |
| serum lipopolysaccharide activity |
0.544 |
— |
common-variant locus |
no MR -> candidate analysis |
| ischemic stroke |
0.54 |
— |
common-variant locus |
MR: beta=0.0199, p=0.286 (cis) |
| coronary artery disorder |
0.54 |
— |
common-variant locus |
no MR -> candidate analysis |
| Thrombophlebitis |
0.515 |
— |
common-variant locus |
MR: beta=0.0568, p=0.142 (cis) |
| phlebitis |
0.515 |
— |
common-variant locus |
MR: beta=0.0568, p=0.142 (cis) |
| alcohol drinking |
0.41 |
— |
common-variant locus |
no MR -> candidate analysis |
| premature birth |
0.386 |
— |
common-variant locus |
no MR -> candidate analysis |
| thrombotic disease |
0.195 |
— |
established (curated) |
no MR -> candidate analysis |
| neuropathic pain |
0.16 |
— |
common-variant locus |
no MR -> candidate analysis |
| pathological myopia |
0.159 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 13 rows above, 10 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=0.0067, LOEUF=0.681 — LoF-tolerant |
| GWAS Catalog |
210 unique SNPs / 562 rows |
| ClinVar |
194 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 796 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 ‘KNG1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 194 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 144 traits by best p-value, aggregated from 222 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/P01042 — 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/ENSG00000113889/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/KNG1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/KNG1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=KNG1%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=KNG1 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/KNG1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:26:32 · 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