CausalSentinel

Protein Dossier — GP5 (Platelet glycoprotein V)

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
Mean platelet volume -0.023 0.00548 2.63e-05 Inverse variance weighted 2 trans NA
Mean platelet volume -0.023 0.00548 2.63e-05 Inverse variance weighted 2 cis NA
Platelet count 8.65 2.11 4.19e-05 Inverse variance weighted 2 trans NA
Platelet count 8.65 2.11 4.19e-05 Inverse variance weighted 2 cis NA
Non-cancer illness code self-reported: osteoarthritis 0.00916 0.00341 0.00716 Inverse variance weighted 2 trans NA
Non-cancer illness code self-reported: osteoarthritis 0.00916 0.00341 0.00716 Inverse variance weighted 2 cis NA
Non-cancer illness code self-reported: psoriasis -0.00353 0.00131 0.00718 Inverse variance weighted 2 trans NA
Non-cancer illness code self-reported: psoriasis -0.00353 0.00131 0.00718 Inverse variance weighted 2 cis NA
Non-cancer illness code self-reported: hypothyroidism or myxoedema 0.0065 0.00262 0.0131 Inverse variance weighted 2 trans NA
Non-cancer illness code self-reported: hypothyroidism or myxoedema 0.0065 0.00262 0.0131 Inverse variance weighted 2 cis NA
Sodium in urine 0.0291 0.012 0.0151 Inverse variance weighted 2 trans NA
Sodium in urine 0.0291 0.012 0.0151 Inverse variance weighted 2 cis NA
…and 204 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

18 association rows across 11 traits (18 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
GP5 protein levels 4e-68 rs1466733 1 GCST90469383 no MR -> candidate analysis
Platelet count 7e-28 rs544985059 5 GCST90662907 MR: beta=8.65, p=4.19e-05 (trans)
Platelet distribution width 8e-25 rs1466733 2 GCST90002401 no MR -> candidate analysis
Platelet distribution width (UKB data field 30110) 2e-23 rs1466733 1 GCST90468097 no MR -> candidate analysis
Platelet glycoprotein V levels 3e-22 rs1466733 1 GCST90247796 no MR -> candidate analysis
Mean platelet volume 1e-19 rs1466733 3 GCST90002349 MR: beta=-0.023, p=2.63e-05 (trans)
Platelet count (UKB data field 30080) 7e-18 rs1466733 1 GCST90468095 no MR -> candidate analysis
mean platelet volume (MPV, maximum, inv-norm transformed) 9e-18 rs376133816 1 GCST90479707 no MR -> candidate analysis
Mean platelet thrombocyte volume (UKB data field 30100) 1e-16 rs10638925 1 GCST90468087 no MR -> candidate analysis
mean platelet volume (MPV, mean, inv-norm transformed) 6e-16 rs376133816 1 GCST90479708 no MR -> candidate analysis
mean platelet volume (MPV, minimum, inv-norm transformed) 1e-11 rs376133816 1 GCST90479709 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 222 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
stroke disorder 0.036 common-variant locus no MR -> candidate analysis
decubitus ulcer 0.036 common-variant locus no MR -> candidate analysis
alcohol drinking 0.036 common-variant locus no MR -> candidate analysis

Of the 3 rows above, 3 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=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged.
GWAS Catalog 46 unique SNPs / 92 rows
ClinVar 135 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance