Protein Dossier — GP1BA (Platelet glycoprotein Ib alpha chain)
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 |
| Juvenile idiopathic arthritis |
0.991 |
0.21 |
2.34e-06 |
Inverse variance weighted |
2 |
cis |
0.702 |
| Juvenile idiopathic arthritis |
0.991 |
0.21 |
2.34e-06 |
Inverse variance weighted |
2 |
trans |
0.968 |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.254 |
0.06 |
2.41e-05 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) |
0.254 |
0.06 |
2.41e-05 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.721 |
0.211 |
6.31e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: R14 Flatulence and related conditions |
0.721 |
0.211 |
6.31e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.194 |
0.0569 |
6.61e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Diagnoses - main ICD10: K80 Cholelithiasis |
0.194 |
0.0569 |
6.61e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.329 |
0.0976 |
7.38e-04 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.329 |
0.0976 |
7.38e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.288 |
0.0907 |
0.00152 |
Inverse variance weighted |
2 |
cis |
NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt |
0.288 |
0.0907 |
0.00152 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 232 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4990_87_1 |
GP1BA |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
49 association rows across 20 traits (48 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 |
| Platelet count |
6e-362 |
rs6065 |
13 |
GCST90662907 |
MR: beta=16.5, p=0.00573 (cis) |
| Hematological traits (multi-trait analysis) |
2e-87 |
rs6065 |
1 |
GCST90838669 |
no MR -> candidate analysis |
| Circulating GP1BA levels |
2e-71 |
rs553749201 |
1 |
GCST90860435 |
no MR -> candidate analysis |
| Platelet distribution width (UKB data field 30110) |
1e-66 |
rs553749201 |
2 |
GCST90468097 |
no MR -> candidate analysis |
| GP1BA protein levels |
2e-66 |
rs553749201 |
2 |
GCST90469380 |
no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) |
8e-54 |
rs6065 |
3 |
GCST90468087 |
no MR -> candidate analysis |
| Mean platelet volume |
2e-53 |
rs772106076 |
8 |
GCST90025960 |
MR: beta=-0.00522, p=0.404 (cis) |
| Platelet count (UKB data field 30080) |
8e-53 |
rs553749201 |
2 |
GCST90468095 |
no MR -> candidate analysis |
| Platelet distribution width |
3e-41 |
rs553749201 |
6 |
GCST90002401 |
no MR -> candidate analysis |
| Platelet crit (UKB data field 30090) |
7e-23 |
rs553749201 |
1 |
GCST90468096 |
no MR -> candidate analysis |
| Plateletcrit |
2e-18 |
rs553749201 |
1 |
GCST90002400 |
no MR -> candidate analysis |
| GP1BB protein levels |
5e-18 |
rs56337033 |
1 |
GCST90469381 |
no MR -> candidate analysis |
| …and 8 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 402 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 |
| Bernard-Soulier syndrome |
0.919 |
— |
established (curated) |
no MR -> candidate analysis |
| platelet-type von Willebrand disease |
0.869 |
— |
established (curated) |
no MR -> candidate analysis |
| Optic neuropathy |
0.862 |
— |
established (curated) |
no MR -> candidate analysis |
| Macrothrombocytopenia |
0.772 |
— |
established (curated) |
no MR -> candidate analysis |
| Thrombocytopenia |
0.603 |
— |
established (curated) |
no MR -> candidate analysis |
| autosomal dominant macrothrombocytopenia |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormal bleeding |
0.564 |
— |
established (curated) |
no MR -> candidate analysis |
| Impaired ristocetin-induced platelet aggregation |
0.438 |
— |
established (curated) |
no MR -> candidate analysis |
| mathematical ability |
0.388 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| liver disorder |
0.14 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 rows above, 11 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 Ib alpha chain) |
| gnomAD constraint |
pLI=0.16, LOEUF=1.38 — LoF-tolerant |
| GWAS Catalog |
95 unique SNPs / 190 rows |
| ClinVar |
386 records; 11 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 402 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 ‘GP1BA’ and resolved to ‘Platelet glycoprotein Ib alpha chain’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 386 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 20 traits by best p-value, aggregated from 49 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/P07359 — 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/ENSG00000185245/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4630891/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GP1BA — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GP1BA — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GP1BA%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=GP1BA — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/GP1BA — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:52:01 · 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