MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Eye problems or disorders: Injury or trauma resulting in loss of vision | 0.301 | 0.0873 | 5.69e-04 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Diabetes related eye disease | 0.264 | 0.0889 | 0.00295 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Other bones | 0.0983 | 0.0354 | 0.00546 | Wald ratio | 1 | cis | NA |
| Packed cell volume | -0.187 | 0.0733 | 0.0108 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pneumothorax | 0.633 | 0.251 | 0.0116 | Wald ratio | 1 | cis | NA |
| Cough on most days | -0.124 | 0.0521 | 0.0171 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.173 | 0.0842 | 0.0394 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | -0.0293 | 0.0147 | 0.0455 | Wald ratio | 1 | cis | NA |
| Fasting insulin | -0.026 | 0.0132 | 0.0486 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | -0.276 | 0.141 | 0.0493 | Wald ratio | 1 | cis | NA |
| Triglycerides | -0.0366 | 0.019 | 0.0545 | Wald ratio | 1 | cis | NA |
| Vascular or heart problems diagnosed by doctor: Angina | -0.107 | 0.0561 | 0.0564 | Wald ratio | 1 | cis | NA |
| …and 90 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
30 association rows across 22 traits (20 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 |
|---|---|---|---|---|---|
| Butyrophilin-like protein 8 levels | 2e-60 | rs201210185 | 2 | GCST90246756 | no MR -> candidate analysis |
| Serum levels of protein BTNL8 | 5e-51 | rs2387717 | 1 | GCST90090457 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, mean, inv-norm t | 2e-43 | rs188238483 | 2 | GCST90475352 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, maximum, inv-nor | 4e-38 | rs188238483 | 2 | GCST90475348 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, minimm, inv-norm | 5e-36 | rs188238483 | 2 | GCST90475356 | no MR -> candidate analysis |
| FLT4 protein levels | 2e-17 | rs249356 | 2 | GCST90469252 | no MR -> candidate analysis |
| Butyrophilin-like protein 9 levels | 5e-17 | rs138692142 | 1 | GCST90246757 | no MR -> candidate analysis |
| High density lipoprotein cholesterol levels | 8e-17 | rs138692142 | 3 | GCST90239649 | no MR -> candidate analysis |
| Butyrophilin-like protein 8 level in Chronic kidney disease | 2e-13 | rs34030001 | 1 | GCST90239160 | no MR -> candidate analysis |
| MEP1B protein levels | 2e-13 | rs576925502 | 1 | GCST90469888 | no MR -> candidate analysis |
| Apolipoprotein A levels (UKB data field 30630) | 7e-13 | rs188238483 | 1 | GCST90468061 | no MR -> candidate analysis |
| HDL cholesterol | 4e-10 | rs188238483 | 1 | GCST90018956 | MR: beta=-0.0132, p=0.497 (cis) |
| …and 10 more traits (see JSON) |
Top diseases by Open Targets association (of 65 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 |
|---|---|---|---|---|
| enteritis | 0.267 | — | common-variant locus | no MR -> candidate analysis |
| benign neoplasm of spinal cord | 0.203 | — | common-variant locus | no MR -> candidate analysis |
Of the 2 rows above, 2 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=6.4e-05, LOEUF=0.871 — LoF-tolerant |
| GWAS Catalog | 39 unique SNPs / 78 rows |
| ClinVar | 125 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 65 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 ‘BTNL8’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 125 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 22 traits by best p-value, aggregated from 30 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q6UX41 — 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/ENSG00000113303/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/BTNL8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/BTNL8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=BTNL8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/BTNL8 — GWAS Catalog search API (live; release not exposed)