CausalSentinel

Protein Dossier — FAM3B (Protein FAM3B)

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
Fractured bone site(s): Ankle	0.00173	0.000638	0.00687	Inverse variance weighted	2	cis	NA
Fractured bone site(s): Ankle	0.00173	0.000638	0.00687	Inverse variance weighted	2	trans	NA
Sleep duration	0.0104	0.00418	0.0125	Inverse variance weighted	2	cis	NA
Sleep duration	0.0104	0.00418	0.0125	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter	0.000975	0.000458	0.0333	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter	0.000975	0.000458	0.0333	Inverse variance weighted	2	trans	NA
Non-cancer illness code self-reported: osteoporosis	0.00173	0.000849	0.041	Inverse variance weighted	2	cis	NA
Non-cancer illness code self-reported: osteoporosis	0.00173	0.000849	0.041	Inverse variance weighted	2	trans	NA
Amygdala volume	10.6	5.33	0.0479	Inverse variance weighted	2	cis	NA
Amygdala volume	10.6	5.33	0.0479	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain	0.00214	0.00109	0.0487	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain	0.00214	0.00109	0.0487	Inverse variance weighted	2	trans	NA
…and 128 more outcomes (see JSON)

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

56 association rows across 29 traits (52 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
Circulating FAM3B levels	2e-1400	rs1859297	4	GCST90860227	no MR -> candidate analysis
Protein FAM3B (analyte X5618.50) levels	7e-800	rs66817580	1	GCST90426405	no MR -> candidate analysis
Protein FAM3B (analyte X9177.6) levels	4e-710	rs66817580	1	GCST90427680	no MR -> candidate analysis
Cerebrospinal fluid protein FAM3B levels	3e-495	rs66817580	1	GCST90943364	no MR -> candidate analysis
FAM3B protein levels	1e-187	rs73226110	5	GCST90469186	no MR -> candidate analysis
Protein FAM3B levels	3e-137	rs17000823	14	GCST90247536	no MR -> candidate analysis
Serum levels of protein FAM3B	2e-100	rs57529409	3	GCST90090536	no MR -> candidate analysis
TIMD4 protein levels	7e-86	rs66817580	1	GCST90470866	no MR -> candidate analysis
Circulating TIMD4 levels	6e-80	rs66933393	1	GCST90860495	no MR -> candidate analysis
Protein FAM3B levels (FAM3B.9177.6.3)	4e-78	rs73226194	6	GCST90242467	no MR -> candidate analysis
Carcinoembryonic antigen levels	9e-57	rs12483517	1	GCST90662869	no MR -> candidate analysis
CEACAM5 protein levels	1e-49	rs441810	1	GCST90468696	no MR -> candidate analysis
…and 17 more traits (see JSON)

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 186 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
ovarian dysfunction	0.486	—	common-variant locus	no MR -> candidate analysis
sinusitis	0.472	—	common-variant locus	no MR -> candidate analysis
obesity disorder	0.273	—	common-variant locus	no MR -> candidate analysis
congestive heart failure	0.205	—	common-variant locus	no MR -> candidate analysis
metabolic syndrome	0.058	—	common-variant locus	no MR -> candidate analysis
diabetes mellitus	0.072	—	common-variant locus	no MR -> candidate analysis
type 2 diabetes mellitus	0.086	—	common-variant locus	no MR -> candidate analysis
synovium disorder	0.08	—	common-variant locus	no MR -> candidate analysis
bone Paget disease	0.075	—	common-variant locus	no MR -> candidate analysis
retinoschisis	0.07	—	common-variant locus	no MR -> candidate analysis
retinal disorder	0.07	—	common-variant locus	no MR -> candidate analysis
primary thrombocytopenia	0.07	—	common-variant locus	no MR -> candidate analysis

Of the 12 rows above, 12 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=1e-10, LOEUF=1.39 — LoF-tolerant
GWAS Catalog	102 unique SNPs / 221 rows
ClinVar	115 records; 3 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 186 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 ‘FAM3B’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 115 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 29 traits by best p-value, aggregated from 56 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/P58499 — 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 v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000183844/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/FAM3B — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/FAM3B — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=FAM3B%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/FAM3B — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T02:34:49 · 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

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