Protein Dossier — EDAR (Tumor necrosis factor receptor superfamily member EDAR)
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 |
| Heel bone mineral density (BMD) T-score automated |
-0.0291 |
0.00819 |
3.86e-04 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages |
0.176 |
0.0742 |
0.0176 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Diabetes related eye disease |
-0.234 |
0.104 |
0.0236 |
Wald ratio |
1 |
cis |
NA |
| Neuroticism |
-0.0205 |
0.00909 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Serum cystatin C (eGFRcys) |
0.0107 |
0.00477 |
0.0252 |
Wald ratio |
1 |
cis |
NA |
| Sleep duration |
-0.0105 |
0.00494 |
0.0333 |
Wald ratio |
1 |
cis |
NA |
| Cough on most days |
0.0638 |
0.0304 |
0.0358 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: pernicious anaemia |
0.201 |
0.0963 |
0.0371 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis |
-0.181 |
0.0889 |
0.0421 |
Wald ratio |
1 |
cis |
NA |
| Neo-neuroticism |
0.494 |
0.254 |
0.0521 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
0.0839 |
0.0452 |
0.0637 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
-0.213 |
0.115 |
0.0653 |
Wald ratio |
1 |
cis |
NA |
| …and 86 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2977_7_2 |
EDAR |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
96 association rows across 75 traits (82 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 |
| EDAR/F2R protein level ratio |
2e-876 |
rs6750059 |
1 |
GCST90314577 |
no MR -> candidate analysis |
| Circulating EDAR levels |
5e-868 |
rs148085735 |
4 |
GCST90860178 |
no MR -> candidate analysis |
| EDAR/PRDX5 protein level ratio |
3e-803 |
rs6750059 |
1 |
GCST90314583 |
no MR -> candidate analysis |
| CRADD/EDAR protein level ratio |
3e-788 |
rs6750059 |
1 |
GCST90314235 |
no MR -> candidate analysis |
| EDAR/ENO2 protein level ratio |
5e-774 |
rs6750059 |
1 |
GCST90314574 |
no MR -> candidate analysis |
| DBI/EDAR protein level ratio |
1e-757 |
rs6750059 |
1 |
GCST90314408 |
no MR -> candidate analysis |
| ANXA3/EDAR protein level ratio |
6e-751 |
rs6750059 |
1 |
GCST90313280 |
no MR -> candidate analysis |
| EDAR/F11R protein level ratio |
7e-724 |
rs6750059 |
1 |
GCST90314576 |
no MR -> candidate analysis |
| EDAR/SNAP23 protein level ratio |
1e-713 |
rs6750059 |
1 |
GCST90314587 |
no MR -> candidate analysis |
| EDAR/TXNDC5 protein level ratio |
1e-690 |
rs6750059 |
1 |
GCST90314593 |
no MR -> candidate analysis |
| DBNL/EDAR protein level ratio |
1e-673 |
rs6750059 |
1 |
GCST90314416 |
no MR -> candidate analysis |
| CD69/EDAR protein level ratio |
2e-654 |
rs6750059 |
1 |
GCST90313875 |
no MR -> candidate analysis |
| …and 63 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 1771 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 |
| autosomal recessive hypohidrotic ectodermal dysplasia |
0.928 |
— |
established (curated) |
no MR -> candidate analysis |
| hypohidrotic ectodermal dysplasia |
0.953 |
— |
established (curated) |
no MR -> candidate analysis |
| ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant |
0.87 |
— |
established (curated) |
no MR -> candidate analysis |
| autosomal dominant hypohidrotic ectodermal dysplasia |
0.526 |
— |
established (curated) |
no MR -> candidate analysis |
| Oligodontia |
0.842 |
— |
established (curated) |
no MR -> candidate analysis |
| ectodermal dysplasia syndrome |
0.745 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.742 |
— |
established (curated) |
no MR -> candidate analysis |
| mitochondrial neurogastrointestinal encephalomyopathy |
0.654 |
— |
established (curated) |
no MR -> candidate analysis |
| Alpers syndrome |
0.654 |
— |
established (curated) |
no MR -> candidate analysis |
| mitochondrial DNA depletion syndrome 4a |
0.654 |
— |
established (curated) |
no MR -> candidate analysis |
| androgenetic alopecia |
0.596 |
— |
common-variant locus |
no MR -> candidate analysis |
| hair morphology |
0.51 |
— |
common-variant locus |
no MR -> candidate analysis |
| vascular disorder |
0.461 |
— |
common-variant locus |
no MR -> candidate analysis |
| facial morphology |
0.46 |
— |
common-variant locus |
no MR -> candidate analysis |
| Left bundle branch block |
0.438 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 15 rows above, 15 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 |
0 known modulators (Tumor necrosis factor receptor superfamily member EDAR) |
| gnomAD constraint |
pLI=3.6e-10, LOEUF=0.972 — LoF-tolerant |
| GWAS Catalog |
50 unique SNPs / 99 rows |
| ClinVar |
455 records; 7 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 1771 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 ‘EDAR’ and resolved to ‘Tumor necrosis factor receptor superfamily member EDAR’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 455 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 75 traits by best p-value, aggregated from 96 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/Q9UNE0 — 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/ENSG00000135960/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1250376/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/EDAR — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/EDAR — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EDAR%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/EDAR — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:23:37 · 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