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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal | 0.196 | 0.0665 | 0.00324 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: deep venous thrombosis (dvt) | 0.142 | 0.0588 | 0.0162 | Wald ratio | 1 | trans | NA |
| 2hr glucose | -0.174 | 0.0784 | 0.0263 | Wald ratio | 1 | trans | NA |
| Sleep duration | 0.0161 | 0.00743 | 0.0298 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | 0.197 | 0.0918 | 0.0319 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms | 0.133 | 0.0683 | 0.0522 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: enlarged prostate | -0.192 | 0.0999 | 0.0541 | Wald ratio | 1 | trans | NA |
| Total cholesterol | -0.0418 | 0.0219 | 0.0563 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: R07 Pain in throat and chest | -0.0876 | 0.0465 | 0.0596 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] | 0.124 | 0.0705 | 0.0795 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | -0.217 | 0.126 | 0.0838 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: depression | -0.0723 | 0.0423 | 0.0872 | Wald ratio | 1 | trans | NA |
| …and 76 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
57 association rows across 47 traits (26 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 |
|---|---|---|---|---|---|
| Core binding factor acute myeloid leukemia | 3e-32 | rs6937985; rs11243033; rs2145980; rs4959355; rs9504502 | 2 | GCST008413 | no MR -> candidate analysis |
| Severe COVID-19 infection | 9e-18 | rs9328292 | 1 | GCST90255357 | no MR -> candidate analysis |
| Height | 6e-17 | rs2753248 | 3 | GCST90245848 | MR: beta=0.0187, p=0.134 (trans) |
| GLIPR1 protein levels | 3e-16 | rs190047298 | 2 | GCST90469357 | no MR -> candidate analysis |
| Neoplasm of uncertain behavior of male genital organs (PheCo | 1e-11 | rs138520938 | 1 | GCST90479804 | no MR -> candidate analysis |
| Weight | 8e-11 | rs11459760 | 2 | GCST90662910 | MR: beta=0.0122, p=0.146 (trans) |
| Human milk oligosaccharide concentration (lacto-N-fucopentao | 5e-10 | rs74867963 | 1 | GCST90027226 | no MR -> candidate analysis |
| Body mass index | 5e-10 | rs9328321 | 1 | GCST90255621 | MR: beta=0.0129, p=0.175 (trans) |
| Gut microbiome abundance (class Tyzzerella sp. 3 (at 3 month | 7e-10 | rs11243009 | 1 | GCST90568581 | no MR -> candidate analysis |
| Gut microbial network clusters (Pink (at 1 year) x Household | 9e-10 | rs7768493 | 2 | GCST90569453 | no MR -> candidate analysis |
| Red cell distribution width | 4e-9 | rs6906241 | 1 | GCST007074 | no MR -> candidate analysis |
| Klebsiella abundance in stool | 5e-9 | rs72825715 | 1 | GCST90032447 | no MR -> candidate analysis |
| …and 35 more traits (see JSON) |
Top diseases by Open Targets association (of 155 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 |
|---|---|---|---|---|
| combined oxidative phosphorylation defect type 14 | 0.891 | — | established (curated) | no MR -> candidate analysis |
| hereditary spastic paraplegia 77 | 0.811 | — | established (curated) | no MR -> candidate analysis |
| hereditary disease | 0.828 | — | established (curated) | no MR -> candidate analysis |
| Leigh syndrome | 0.669 | — | established (curated) | no MR -> candidate analysis |
| autosomal dominant Alport syndrome | 0.608 | — | established (curated) | no MR -> candidate analysis |
| COVID-19 | 0.5 | — | common-variant locus | no MR -> candidate analysis |
| severe acute respiratory syndrome | 0.5 | — | common-variant locus | no MR -> candidate analysis |
| tooth agenesis | 0.456 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.439 | — | common-variant locus | no MR -> candidate analysis |
| male reproductive organ cancer | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| nephrotic syndrome | 0.435 | — | common-variant locus | no MR -> candidate analysis |
| Global developmental delay | 0.426 | — | established (curated) | no MR -> candidate analysis |
| gastrointestinal disease | 0.433 | — | common-variant locus | no MR -> candidate analysis |
| Vertigo | 0.431 | — | common-variant locus | no MR -> candidate analysis |
| mitochondrial encephalomyopathy | 0.426 | — | 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 (Phenylalanine–tRNA ligase, mitochondrial) |
| gnomAD constraint | pLI=2.2e-12, LOEUF=1.12 — LoF-tolerant |
| GWAS Catalog | 63 unique SNPs / 121 rows |
| ClinVar | 712 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 155 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 ‘FARS2’ and resolved to ‘Phenylalanine–tRNA ligase, mitochondrial’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 712 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 47 traits by best p-value, aggregated from 57 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/O95363 — 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/ENSG00000145982/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2511/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/FARS2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FARS2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FARS2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FARS2 — GWAS Catalog search API (live; release not exposed)