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 |
|---|---|---|---|---|---|---|---|
| Weight | -0.0181 | 0.00513 | 4.12e-04 | Wald ratio | 1 | trans | NA |
| Body mass index (BMI) | -0.0197 | 0.00581 | 6.77e-04 | Wald ratio | 1 | trans | NA |
| Underlying (primary) cause of death: ICD10: E85.4 Organ-limited amyloidosis | 1.27 | 0.443 | 0.004 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | 0.0125 | 0.00477 | 0.00881 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.113 | 0.0469 | 0.0164 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: bone disorder | 0.237 | 0.0989 | 0.0167 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypertension | -0.0238 | 0.0101 | 0.0188 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | 0.0174 | 0.00752 | 0.021 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: gout | -0.127 | 0.0555 | 0.0219 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.154 | 0.0678 | 0.0227 | Wald ratio | 1 | trans | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0114 | 0.00503 | 0.0235 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: N81 Female genital prolapse | 0.0967 | 0.0441 | 0.0285 | Wald ratio | 1 | trans | NA |
| …and 64 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
6 association rows across 6 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 |
|---|---|---|---|---|---|
| Height | 4e-32 | rs209999 | 1 | GCST90018959 | no MR -> candidate analysis |
| Hemoglobin A1c levels | 3e-14 | rs10622586 | 1 | GCST90018958 | no MR -> candidate analysis |
| Lung function (forced vital capacity) | 2e-11 | rs210034 | 1 | GCST90244093 | no MR -> candidate analysis |
| Forced vital capacity (FVC) | 2e-11 | rs209539 | 1 | GCST90705071 | MR: beta=0.0125, p=0.00881 (trans) |
| Facial morphology (factor 15, philtrum width) | 1e-6 | rs143386295 | 1 | GCST004319 | no MR -> candidate analysis |
| Bipolar disorder | 5e-6 | rs188076915 | 1 | GCST008103 | MR: beta=0.198, p=0.0356 (trans) |
Top diseases by Open Targets association (of 2534 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 |
|---|---|---|---|---|
| severe X-linked mitochondrial encephalomyopathy | 0.847 | — | established (curated) | no MR -> candidate analysis |
| X-linked hereditary sensory and autonomic neuropathy with deafness | 0.906 | — | established (curated) | no MR -> candidate analysis |
| X-linked Charcot-Marie-Tooth disease type 4 | 0.741 | — | established (curated) | no MR -> candidate analysis |
| spondyloepimetaphyseal dysplasia, Bieganski type | 0.843 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 0.753 | — | established (curated) | no MR -> candidate analysis |
| X-linked hereditary sensory and autonomic neuropathy with hearing loss | 0.947 | — | established (curated) | no MR -> candidate analysis |
| combined oxidative phosphorylation deficiency | 0.852 | — | established (curated) | no MR -> candidate analysis |
| Charcot-Marie-Tooth disease | 0.852 | — | established (curated) | no MR -> candidate analysis |
| auditory neuropathy | 0.766 | — | established (curated) | no MR -> candidate analysis |
| Tip-toe gait | 0.591 | — | established (curated) | no MR -> candidate analysis |
| dystonia 9 | 0.438 | — | established (curated) | no MR -> candidate analysis |
| Sensorineural hearing impairment | 0.438 | — | established (curated) | no MR -> candidate analysis |
| ear malformation | 0.438 | — | established (curated) | no MR -> candidate analysis |
| Foot dorsiflexor weakness | 0.438 | — | established (curated) | no MR -> candidate analysis |
| Distal muscle weakness | 0.438 | — | established (curated) | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Apoptosis-inducing factor 1, mitochondrial) |
| gnomAD constraint | pLI=1, LOEUF=0.15 — LoF-INTOLERANT |
| GWAS Catalog | 12 unique SNPs / 24 rows |
| ClinVar | 964 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 2534 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 ‘AIFM1’ and resolved to ‘Apoptosis-inducing factor 1, mitochondrial’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 964 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 6 of 6 traits by best p-value, aggregated from 6 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/O95831 — 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/ENSG00000156709/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4295688/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/AIFM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AIFM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AIFM1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AIFM1 — GWAS Catalog search API (live; release not exposed)