Protein Dossier — RELT (Tumor necrosis factor receptor superfamily member 19L)
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 |
| Forced expiratory volume in 1-second (FEV1) |
0.0316 |
0.00617 |
3.01e-07 |
Wald ratio |
1 |
cis |
0.667 |
| Diastolic blood pressure automated reading |
-0.0313 |
0.00731 |
1.87e-05 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
0.204 |
0.0487 |
2.73e-05 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.261 |
0.075 |
5.03e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
0.0197 |
0.00585 |
7.72e-04 |
Wald ratio |
1 |
cis |
NA |
| Body mass index (BMI) |
-0.0221 |
0.00714 |
0.00198 |
Wald ratio |
1 |
cis |
NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
0.0538 |
0.0184 |
0.00349 |
Wald ratio |
1 |
cis |
NA |
| Potassium in urine |
-0.0202 |
0.00725 |
0.00529 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R11 Nausea and vomiting |
0.249 |
0.0894 |
0.00531 |
Wald ratio |
1 |
cis |
NA |
| Creatinine (enzymatic) in urine |
-0.019 |
0.00683 |
0.00542 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertension |
-0.0337 |
0.0126 |
0.00737 |
Wald ratio |
1 |
cis |
NA |
| Weight |
-0.0165 |
0.0063 |
0.00873 |
Wald ratio |
1 |
cis |
NA |
| …and 103 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5115_31_3 |
RELT |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
4 association rows across 4 traits (4 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 |
| Circulating RELT levels |
5e-690 |
rs56801796 |
1 |
GCST90860670 |
no MR -> candidate analysis |
| RELT protein levels |
1e-39 |
rs151264098 |
1 |
GCST90470453 |
no MR -> candidate analysis |
| Blood protein levels |
2e-33 |
rs7118982 |
1 |
GCST006585 |
no MR -> candidate analysis |
| Tumor necrosis factor receptor superfamily member 19L levels |
5e-31 |
rs56801796 |
1 |
GCST90137740 |
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 128 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 |
| amelogenesis imperfecta |
0.818 |
— |
established (curated) |
no MR -> candidate analysis |
| hypocalcified amelogenesis imperfecta |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| Pain |
0.467 |
— |
common-variant locus |
MR: beta=0.0755, p=0.0183 (cis) |
| diverticular disease |
0.409 |
— |
common-variant locus |
MR: beta=0.0523, p=0.274 (cis) |
| pernicious anemia |
0.395 |
— |
common-variant locus |
no MR -> candidate analysis |
| Varicose veins |
0.325 |
— |
common-variant locus |
no MR -> candidate analysis |
| vein disorder |
0.322 |
— |
common-variant locus |
no MR -> candidate analysis |
| lymphatic system disorder |
0.322 |
— |
common-variant locus |
no MR -> candidate analysis |
| Crohn disease |
0.321 |
— |
common-variant locus |
no MR -> candidate analysis |
| hereditary disease |
0.317 |
— |
established (curated) |
no MR -> candidate analysis |
| Abnormality of refraction |
0.155 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 11 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 |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1.1e-09, LOEUF=0.953 — LoF-tolerant |
| GWAS Catalog |
33 unique SNPs / 66 rows |
| ClinVar |
116 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 128 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 ‘RELT’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 116 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 4 of 4 traits by best p-value, aggregated from 4 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/Q969Z4 — 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/ENSG00000054967/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RELT — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RELT — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RELT%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RELT — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:47:44 · 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