CausalSentinel

Protein Dossier — SLC22A16 (Solute carrier family 22 member 16)

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
Non-cancer illness code self-reported: high cholesterol 0.0885 0.0337 0.0086 Wald ratio 1 trans NA
Clear cell ovarian cancer 0.48 0.231 0.0376 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hypopituitarism 0.803 0.393 0.041 Wald ratio 1 trans NA
Diagnoses - main ICD10: J33 Nasal polyp 0.3 0.15 0.0461 Wald ratio 1 trans NA
Forced vital capacity (FVC) -0.022 0.0112 0.0487 Wald ratio 1 trans NA
Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] 0.164 0.0837 0.0497 Wald ratio 1 trans NA
Non-cancer illness code self-reported: kidney stone or ureter stone or bladder stone 0.235 0.124 0.0578 Wald ratio 1 trans NA
Non-cancer illness code self-reported: polio or poliomyelitis 0.592 0.324 0.0678 Wald ratio 1 trans NA
Creatinine (enzymatic) in urine 0.0229 0.013 0.0782 Wald ratio 1 trans NA
Cigarettes smoked per day 0.856 0.49 0.081 Wald ratio 1 trans NA
Diagnoses - main ICD10: M23 Internal derangement of knee 0.139 0.0801 0.0819 Wald ratio 1 trans NA
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal 0.17 0.098 0.0836 Wald ratio 1 trans NA
…and 79 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

184 association rows across 106 traits (166 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
Arachidonoylcarnitine (C20:4) levels 6e-174 rs12210538 2 GCST90200150 no MR -> candidate analysis
Dihomo-linolenoylcarnitine (C20:3n3 or 6) levels 2e-164 rs12210538 2 GCST90200139 no MR -> candidate analysis
Linoleoylcarnitine levels 2e-156 rs72939920 2 GCST90245282 no MR -> candidate analysis
Octadecandienylcarnitine levels 2e-144 rs12210538 1 GCST90010774 no MR -> candidate analysis
Oleoylcarnitine levels 1e-132 rs72939920 2 GCST90245349 no MR -> candidate analysis
Acylcarnitine (18:1) levels 6e-97 rs12210538 9 GCST90024622 no MR -> candidate analysis
Palmitoylcarnitine levels 2e-89 rs72939920 2 GCST90245362 no MR -> candidate analysis
Hexadecanoylcarnitine levels 2e-82 rs72939920 1 GCST90010770 no MR -> candidate analysis
Stearoylcarnitine levels 1e-76 rs72939920 2 GCST90245435 no MR -> candidate analysis
Acylcarnitine (16:0) levels 1e-76 rs12210538 8 GCST90023988 no MR -> candidate analysis
Dihomo-linoleoylcarnitine (C20:2) levels 4e-72 rs12210538 2 GCST90200144 no MR -> candidate analysis
Plasma arachidonoylcarnitine (C20:4) levels in chronic kidne 3e-70 rs12210538 1 GCST90264823 no MR -> candidate analysis
…and 94 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 85 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
melanoma 0.582 common-variant locus MR: beta=-0.252, p=0.228 (trans)
cervical carcinoma 0.479 common-variant locus no MR -> candidate analysis
ulcerative colitis 0.44 common-variant locus no MR -> candidate analysis
cardiomyopathy 0.406 common-variant locus no MR -> candidate analysis
endocrine system disorder 0.23 common-variant locus no MR -> candidate analysis
ovarian dysfunction 0.141 common-variant locus no MR -> candidate analysis
self-injurious ideation 0.096 common-variant locus no MR -> candidate analysis
cellulitis 0.09 common-variant locus MR: beta=-0.132, p=0.463 (trans)
abscess 0.09 common-variant locus no MR -> candidate analysis

Of the 9 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.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability 0 known modulators (Solute carrier family 22 member 16)
gnomAD constraint pLI=1.5e-18, LOEUF=1.26 — LoF-tolerant
GWAS Catalog 75 unique SNPs / 141 rows
ClinVar 143 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx 5 clinical annotations across 4 drugs

Caveats declared by the tools

Sources

Provenance