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 |
|---|---|---|---|---|---|---|---|
| Alzheimer’s disease | 0.226 | 0.0772 | 0.00346 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | 0.119 | 0.0412 | 0.00392 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) | 0.96 | 0.342 | 0.00503 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.256 | 0.119 | 0.032 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | -0.171 | 0.0816 | 0.0358 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone | -0.4 | 0.197 | 0.0425 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | 0.175 | 0.0891 | 0.0501 | Wald ratio | 1 | cis | NA |
| Caudate volume | 44.2 | 23 | 0.0545 | Wald ratio | 1 | cis | NA |
| Pallidum volume | 17.3 | 9 | 0.0547 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | 0.129 | 0.0689 | 0.0607 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K20 Oesophagitis | -0.29 | 0.155 | 0.0618 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R10 Abdominal and pelvic pain | -0.112 | 0.0605 | 0.0651 | Wald ratio | 1 | cis | NA |
| …and 62 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
23 association rows across 15 traits (15 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 | 5e-30 | rs2952317 | 6 | GCST90245848 | no MR -> candidate analysis |
| FAM20A protein levels | 2e-29 | rs72849705 | 2 | GCST90469185 | no MR -> candidate analysis |
| KLB protein levels | 2e-23 | rs193135916 | 1 | GCST90469693 | no MR -> candidate analysis |
| Pseudokinase FAM20A levels | 4e-17 | rs3214285 | 1 | GCST90247538 | no MR -> candidate analysis |
| Body shape phenotype PC2 | 3e-13 | rs2907384 | 1 | GCST90832990 | no MR -> candidate analysis |
| Mosaic loss of chromosome X | 9e-11 | rs16973034 | 2 | GCST90328148 | no MR -> candidate analysis |
| Height (baseline) | 3e-9 | rs2907384 | 1 | GCST90565843 | no MR -> candidate analysis |
| Blood cell traits latent factor 17 (white cell) | 2e-8 | rs2952313 | 1 | GCST90559259 | no MR -> candidate analysis |
| Crohn’s disease (Tractor method with African ancestry) | 5e-7 | rs530538676 | 1 | GCST90825984 | no MR -> candidate analysis |
| Glioblastoma | 3e-6 | rs191695598 | 2 | GCST90296481 | no MR -> candidate analysis |
| Neonatal abstinence syndrome | 3e-6 | rs2952303 | 1 | GCST90134524 | no MR -> candidate analysis |
| 3-hydroxy-1-methylpropylmercapturic acid levels in smokers | 4e-6 | rs12453524 | 1 | GCST002957 | no MR -> candidate analysis |
| …and 3 more traits (see JSON) |
Top diseases by Open Targets association (of 1428 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 type 1G | 0.891 | — | established (curated) | no MR -> candidate analysis |
| otosclerosis | 0.543 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| Chorioretinal scar | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| hearing loss, mixed conductive-sensorineural | 0.343 | — | common-variant locus | no MR -> candidate analysis |
| cholelithiasis | 0.324 | — | common-variant locus | no MR -> candidate analysis |
| hereditary disease | 0.318 | — | established (curated) | no MR -> candidate analysis |
| Carney complex, type 1 | 0.243 | — | established (curated) | no MR -> candidate analysis |
| Acrodysostosis 1 with or without hormone resistance | 0.195 | — | established (curated) | no MR -> candidate analysis |
| Hypercholesterolemia | 0.204 | — | common-variant locus | MR: beta=0.0442, p=0.126 (cis) |
| familial atrial myxoma | 0.195 | — | established (curated) | no MR -> candidate analysis |
| pigmented nodular adrenocortical disease, primary, 1 | 0.195 | — | established (curated) | no MR -> candidate analysis |
| metabolic disease | 0.181 | — | common-variant locus | no MR -> candidate analysis |
| hyperlipidemia | 0.181 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.176 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=3.6e-12, LOEUF=1.04 — LoF-tolerant |
| GWAS Catalog | 100 unique SNPs / 180 rows |
| ClinVar | 390 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1428 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 ‘FAM20A’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 390 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 15 of 15 traits by best p-value, aggregated from 23 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/Q96MK3 — 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/ENSG00000108950/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/FAM20A — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/FAM20A — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FAM20A%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/FAM20A — GWAS Catalog search API (live; release not exposed)