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: K57 Diverticular disease of intestine | 0.115 | 0.0349 | 9.97e-04 | Wald ratio | 1 | cis | NA |
| Sodium in urine | -0.0158 | 0.00547 | 0.00384 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Glaucoma | -0.15 | 0.054 | 0.00539 | Wald ratio | 1 | cis | NA |
| Myocardial infarction | -0.0644 | 0.0237 | 0.00652 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.131 | 0.0509 | 0.00973 | Wald ratio | 1 | cis | NA |
| Microalbuminuria | 0.114 | 0.0478 | 0.0173 | Wald ratio | 1 | cis | NA |
| Fasting glucose | -0.0173 | 0.00752 | 0.0213 | Wald ratio | 1 | cis | NA |
| Years of schooling | -0.0205 | 0.00911 | 0.0244 | Wald ratio | 1 | cis | NA |
| Coronary heart disease | -0.0424 | 0.0214 | 0.0478 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: osteoporosis | -0.0974 | 0.0493 | 0.0482 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: gout | -0.101 | 0.0517 | 0.0502 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb | -0.0908 | 0.0464 | 0.0504 | Wald ratio | 1 | cis | NA |
| …and 96 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
34 association rows across 30 traits (20 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 |
|---|---|---|---|---|---|
| UPF0606 protein KIAA1549L levels | 8e-361 | rs2753408 | 3 | GCST90250103 | no MR -> candidate analysis |
| Serum levels of protein KIAA1549L | 2e-176 | rs2753408 | 2 | GCST90086567 | no MR -> candidate analysis |
| Blood protein levels | 7e-68 | rs12792396 | 1 | GCST006585 | no MR -> candidate analysis |
| CD59 protein levels | 2e-35 | rs831609 | 1 | GCST90468639 | no MR -> candidate analysis |
| Open-angle glaucoma (PheCode 365.1) | 2e-13 | rs34828249 | 1 | GCST90480067 | no MR -> candidate analysis |
| Glaucoma | 3e-13 | rs34828249 | 1 | GCST90480069 | MR: beta=-0.15, p=0.00539 (cis) |
| Pulse pressure | 6e-13 | rs755901261 | 2 | GCST90000065 | no MR -> candidate analysis |
| UPF0606 protein KIAA1549L level in Chronic kidney disease wi | 4e-12 | rs2753408 | 1 | GCST90233085 | no MR -> candidate analysis |
| Arthropathy associated with other disorders (PheCode 713) | 3e-11 | rs550171641 | 1 | GCST90480499 | no MR -> candidate analysis |
| Gut microbial network clusters (Salmon (at 1 year) x Househo | 2e-10 | rs77101501 | 1 | GCST90569455 | no MR -> candidate analysis |
| Vertical cup-disc ratio | 2e-9 | rs3898926 | 1 | GCST90129627 | no MR -> candidate analysis |
| Vertical cup-disc ratio (multi-trait analysis) | 2e-9 | rs2753411 | 1 | GCST009724 | no MR -> candidate analysis |
| …and 18 more traits (see JSON) |
Top diseases by Open Targets association (of 60 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 |
|---|---|---|---|---|
| glaucoma | 0.654 | — | common-variant locus | MR: beta=-0.15, p=0.00539 (cis) |
| open-angle glaucoma | 0.654 | — | common-variant locus | no MR -> candidate analysis |
| brain cancer | 0.443 | — | common-variant locus | no MR -> candidate analysis |
| aortic disorder | 0.424 | — | common-variant locus | no MR -> candidate analysis |
| hyperaldosteronism | 0.424 | — | common-variant locus | no MR -> candidate analysis |
| adrenal gland hyperfunction | 0.424 | — | common-variant locus | no MR -> candidate analysis |
| blood coagulation disease | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| tonsillitis | 0.394 | — | common-variant locus | no MR -> candidate analysis |
| vitiligo | 0.345 | — | common-variant locus | no MR -> candidate analysis |
| arthropathy | 0.331 | — | common-variant locus | no MR -> candidate analysis |
| drug-induced dyskinesia | 0.3 | — | common-variant locus | no MR -> candidate analysis |
| cataract | 0.3 | — | common-variant locus | MR: beta=-0.021, p=0.497 (cis) |
| gastritis | 0.294 | — | common-variant locus | no MR -> candidate analysis |
| bone fracture | 0.282 | — | common-variant locus | no MR -> candidate analysis |
Of the 14 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=4.5e-13, LOEUF=0.654 — LoF-tolerant |
| GWAS Catalog | 47 unique SNPs / 94 rows |
| ClinVar | 320 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 60 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 ‘KIAA1549L’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 320 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 30 traits by best p-value, aggregated from 34 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/Q6ZVL6 — 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/ENSG00000110427/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/KIAA1549L — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/KIAA1549L — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=KIAA1549L%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/KIAA1549L — GWAS Catalog search API (live; release not exposed)