Protein Dossier — GP6 (Platelet glycoprotein VI)
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 |
| Platelet count |
-3.22 |
0.869 |
2.12e-04 |
Wald ratio |
1 |
cis |
NA |
| Mean platelet volume |
0.00746 |
0.00213 |
4.65e-04 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.624 |
0.19 |
0.00101 |
Wald ratio |
1 |
cis |
NA |
| Gallbladder cancer |
-2.43 |
0.925 |
0.00847 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0219 |
0.00845 |
0.00969 |
Wald ratio |
1 |
cis |
NA |
| Alzheimer’s disease |
0.0789 |
0.0349 |
0.0237 |
Wald ratio |
1 |
cis |
NA |
| Systemic lupus erythematosus |
-0.208 |
0.092 |
0.0241 |
Wald ratio |
1 |
cis |
NA |
| Systolic blood pressure automated reading |
-0.011 |
0.00496 |
0.026 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.0701 |
0.0321 |
0.029 |
Wald ratio |
1 |
cis |
NA |
| Putamen volume |
-25.7 |
12.1 |
0.0342 |
Wald ratio |
1 |
cis |
NA |
| Invasive mucinous ovarian cancer |
0.18 |
0.0857 |
0.0356 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
-0.0907 |
0.0433 |
0.0362 |
Wald ratio |
1 |
cis |
NA |
| …and 95 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3194_36_2 |
GPVI |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
405 association rows across 351 traits (400 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 |
| GP6/HPCAL1 protein level ratio |
4e-1824 |
rs1613662 |
1 |
GCST90314963 |
no MR -> candidate analysis |
| GP6/SERPINB1 protein level ratio |
1e-1477 |
rs1613662 |
1 |
GCST90314972 |
no MR -> candidate analysis |
| GP6/MPIG6B protein level ratio |
2e-1277 |
rs1613662 |
1 |
GCST90314968 |
no MR -> candidate analysis |
| F2R/GP6 protein level ratio |
1e-1252 |
rs1613662 |
1 |
GCST90314730 |
no MR -> candidate analysis |
| GP6/MIF protein level ratio |
2e-1234 |
rs1613662 |
1 |
GCST90314967 |
no MR -> candidate analysis |
| GP6/TMSB10 protein level ratio |
2e-1190 |
rs1613662 |
1 |
GCST90314975 |
no MR -> candidate analysis |
| DAG1/GP6 protein level ratio |
7e-1066 |
rs1613662 |
1 |
GCST90314375 |
no MR -> candidate analysis |
| GP6/LGALS8 protein level ratio |
6e-1039 |
rs1613662 |
1 |
GCST90314964 |
no MR -> candidate analysis |
| FYB1/GP6 protein level ratio |
7e-934 |
rs1613662 |
1 |
GCST90314909 |
no MR -> candidate analysis |
| GP6/MANF protein level ratio |
2e-899 |
rs1613662 |
1 |
GCST90314965 |
no MR -> candidate analysis |
| GP6/STIP1 protein level ratio |
6e-800 |
rs1613662 |
1 |
GCST90314974 |
no MR -> candidate analysis |
| GP6/MESD protein level ratio |
5e-798 |
rs1613662 |
1 |
GCST90314966 |
no MR -> candidate analysis |
| …and 339 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 553 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 |
| platelet-type bleeding disorder 11 |
0.825 |
— |
established (curated) |
no MR -> candidate analysis |
| Bleeding diathesis due to glycoprotein VI deficiency |
0.73 |
— |
established (curated) |
no MR -> candidate analysis |
| venous thromboembolism |
0.807 |
— |
common-variant locus |
no MR -> candidate analysis |
| Thromboembolism |
0.725 |
— |
common-variant locus |
no MR -> candidate analysis |
| platelet aggregation |
0.715 |
— |
common-variant locus |
no MR -> candidate analysis |
| deep vein thrombosis |
0.6 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.318 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormal bleeding |
0.24 |
— |
established (curated) |
no MR -> candidate analysis |
| Thrombocytopenia |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 9 rows above, 9 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 |
1 known modulators (Platelet glycoprotein VI) |
| gnomAD constraint |
pLI=2.2e-18, LOEUF=1.55 — LoF-tolerant |
| GWAS Catalog |
85 unique SNPs / 170 rows |
| ClinVar |
382 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 553 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘GP6’ and resolved to ‘Platelet glycoprotein VI’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 382 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 351 traits by best p-value, aggregated from 405 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/Q9HCN6 — 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/ENSG00000088053/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3308912/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GP6 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GP6 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GP6%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=GP6 — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/GP6 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:52:33 · 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