Protein Dossier — AMH (Anti-Muellerian hormone)
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 |
| Femoral neck bone mineral density |
-0.108 |
0.0353 |
0.00216 |
Wald ratio |
1 |
trans |
NA |
| Lumbar spine bone mineral density |
-0.116 |
0.0411 |
0.00492 |
Wald ratio |
1 |
trans |
NA |
| Height |
0.0372 |
0.0139 |
0.00724 |
Wald ratio |
1 |
trans |
NA |
| Cough on most days |
0.129 |
0.0502 |
0.0104 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: R55 Syncope and collapse |
-0.488 |
0.202 |
0.0157 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
-0.148 |
0.0624 |
0.0179 |
Wald ratio |
1 |
trans |
NA |
| Age at menarche |
0.0554 |
0.0264 |
0.036 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: arthritis (nos) |
0.212 |
0.105 |
0.0429 |
Wald ratio |
1 |
trans |
NA |
| Diagnoses - main ICD10: L03 Cellulitis |
0.204 |
0.102 |
0.0454 |
Wald ratio |
1 |
trans |
NA |
| Neuroticism |
0.0317 |
0.0158 |
0.0455 |
Wald ratio |
1 |
trans |
NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries |
-0.413 |
0.209 |
0.0487 |
Wald ratio |
1 |
trans |
NA |
| Triglycerides |
-0.0432 |
0.0222 |
0.0516 |
Wald ratio |
1 |
trans |
NA |
| …and 70 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4923_79_1 |
MIS |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
3 association rows across 3 traits (3 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 |
| Anti-Mullerian hormone levels in pre-menopausal women |
8e-12 |
rs10417628 |
1 |
GCST90428625 |
no MR -> candidate analysis |
| Anti-Mullerian hormone levels |
1e-11 |
rs10417628 |
1 |
GCST90104596 |
no MR -> candidate analysis |
| Pulse pressure |
3e-8 |
rs10407022 |
1 |
GCST006022 |
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 761 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 |
| persistent Mullerian duct syndrome |
0.9 |
— |
established (curated) |
no MR -> candidate analysis |
| Persistent Müllerian duct syndrome |
0.864 |
— |
established (curated) |
no MR -> candidate analysis |
| genetic non-acquired premature ovarian failure |
0.426 |
— |
established (curated) |
no MR -> candidate analysis |
| hereditary disease |
0.318 |
— |
established (curated) |
no MR -> candidate analysis |
| obesity disorder |
0.144 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 5 rows above, 5 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-15, LOEUF=1.53 — LoF-tolerant |
| GWAS Catalog |
100 unique SNPs / 202 rows |
| ClinVar |
311 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 761 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 ‘AMH’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 311 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 3 of 3 traits by best p-value, aggregated from 3 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/P03971 — 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/ENSG00000104899/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/AMH — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AMH — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AMH%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AMH — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T01:02:25 · 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