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 |
|---|---|---|---|---|---|---|---|
| Height | 0.0381 | 0.0142 | 0.00744 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.452 | 0.169 | 0.00754 | Wald ratio | 1 | cis | NA |
| Pulse rate | -0.0429 | 0.0181 | 0.0175 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | 0.169 | 0.0727 | 0.0197 | Wald ratio | 1 | cis | NA |
| Small vessel disease | 0.338 | 0.154 | 0.0275 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: asthma | -0.0677 | 0.0307 | 0.0277 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: retinal detachment | 0.283 | 0.138 | 0.04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: polio or poliomyelitis | 0.507 | 0.255 | 0.0463 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | 0.216 | 0.109 | 0.0476 | Wald ratio | 1 | cis | NA |
| Chronic kidney disease | -0.13 | 0.0669 | 0.0527 | Wald ratio | 1 | cis | NA |
| HOMA-B | 0.0502 | 0.0272 | 0.0649 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0883 | 0.049 | 0.0713 | Wald ratio | 1 | cis | NA |
| …and 92 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
31 association rows across 24 traits (31 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 |
|---|---|---|---|---|---|
| Arfaptin-1 levels | 5e-160 | rs4619875 | 1 | GCST90246566 | no MR -> candidate analysis |
| ARFIP1 protein levels | 3e-123 | rs4619875 | 1 | GCST90468349 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 1e-44 | rs11099854 | 2 | GCST90838669 | no MR -> candidate analysis |
| Red cell distribution width | 1e-38 | rs4619875 | 4 | GCST90002404 | no MR -> candidate analysis |
| Red blood cell erythrocyte distribution width (UKB data fiel | 1e-37 | rs4619875 | 1 | GCST90468099 | no MR -> candidate analysis |
| Circulating MMP9 levels | 1e-29 | rs12509964 | 1 | GCST90859917 | no MR -> candidate analysis |
| red cell diameter width (RDW, mean, inv-norm transformed) | 4e-23 | rs4619875 | 2 | GCST90476361 | no MR -> candidate analysis |
| Height | 6e-23 | rs7664303 | 1 | GCST90245848 | MR: beta=0.0381, p=0.00744 (cis) |
| mean corpuscular hemoglobin concentration (MCHC, mean, inv-n | 1e-22 | rs4619875 | 2 | GCST90475458 | no MR -> candidate analysis |
| Arfaptin-1 levels (ARFIP1.13488.3.3) | 7e-22 | rs4619875 | 1 | GCST90240329 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 8e-20 | rs4619875 | 1 | GCST90468087 | no MR -> candidate analysis |
| red cell diameter width (RDW, minimum, inv-norm transformed) | 8e-18 | rs4619875 | 1 | GCST90476365 | no MR -> candidate analysis |
| …and 12 more traits (see JSON) |
Top diseases by Open Targets association (of 28 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 |
|---|---|---|---|---|
| pneumoconiosis | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| Sjogren syndrome | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.172 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.172 | — | common-variant locus | no MR -> candidate analysis |
| nervous system cancer | 0.153 | — | common-variant locus | no MR -> candidate analysis |
| brain cancer | 0.153 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.035 | — | common-variant locus | no MR -> candidate analysis |
Of the 7 rows above, 7 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=0.00013, LOEUF=0.795 — LoF-tolerant |
| GWAS Catalog | 31 unique SNPs / 62 rows |
| ClinVar | 87 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 28 of 28 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 ‘ARFIP1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 87 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 24 traits by best p-value, aggregated from 31 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/P53367 — 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/ENSG00000164144/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ARFIP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ARFIP1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ARFIP1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ARFIP1 — GWAS Catalog search API (live; release not exposed)