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 |
|---|---|---|---|---|---|---|---|
| Triglycerides | -0.252 | 0.014 | 7.71e-73 | Wald ratio | 1 | trans | 0.998 |
| HDL cholesterol | 0.236 | 0.0143 | 5.55e-61 | Wald ratio | 1 | trans | 0.998 |
| LDL cholesterol | -0.21 | 0.0154 | 2.73e-42 | Wald ratio | 1 | trans | 4.21e-13 |
| Total cholesterol | -0.16 | 0.015 | 1.46e-26 | Wald ratio | 1 | trans | 6.56e-14 |
| Non-cancer illness code self-reported: high cholesterol | -0.316 | 0.0396 | 1.39e-15 | Wald ratio | 1 | trans | 2e-13 |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.145 | 0.0445 | 0.00113 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.32 | 0.107 | 0.00266 | Wald ratio | 1 | trans | NA |
| Celiac disease | 0.232 | 0.08 | 0.00373 | Wald ratio | 1 | trans | NA |
| Mean cell volume | -0.284 | 0.105 | 0.00699 | Wald ratio | 1 | trans | NA |
| Clear cell ovarian cancer | 0.453 | 0.171 | 0.00794 | Wald ratio | 1 | trans | NA |
| Alzheimer’s disease | -0.176 | 0.0669 | 0.00851 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse | 0.281 | 0.111 | 0.0109 | Wald ratio | 1 | trans | NA |
| …and 105 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
15 association rows across 15 traits (7 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 |
|---|---|---|---|---|---|
| Educational attainment | 2e-12 | rs7397905 | 1 | GCST90105038 | no MR -> candidate analysis |
| Neurofibrillary tangles (SNP x SNP interaction) | 5e-10 | rs11787434 x rs2712622 | 1 | GCST010343 | no MR -> candidate analysis |
| Stem Cell Growth Factor-beta levels | 4e-9 | rs56086228 | 1 | GCST90428433 | no MR -> candidate analysis |
| A body shape index | 1e-8 | rs7296340 | 1 | GCST90020024 | no MR -> candidate analysis |
| Waist-hip index | 4e-8 | rs7296340 | 1 | GCST90020027 | no MR -> candidate analysis |
| Triglycerides in LDL meal response (OrNLSr) | 4e-8 | rs2037053 | 1 | GCST90091794 | no MR -> candidate analysis |
| Triglycerides levels in medium LDL meal response (OrNLSr) | 4e-8 | rs2037053 | 1 | GCST90091795 | no MR -> candidate analysis |
| SSRI response to psychomotor-insight syndromal factor measur | 6e-7 | rs824315 | 1 | GCST90270299 | no MR -> candidate analysis |
| Granulocyte-colony stimulating factor levels | 1e-6 | rs143158039 | 1 | GCST004458 | no MR -> candidate analysis |
| Shingles | 4e-6 | rs721633 | 1 | GCST005001 | no MR -> candidate analysis |
| Serum barium levels | 4e-6 | rs58616750 | 1 | GCST90100519 | no MR -> candidate analysis |
| Colorectal cancer x total fish intake interaction | 4e-6 | rs823559 | 1 | GCST90502813 | no MR -> candidate analysis |
| …and 3 more traits (see JSON) |
Top diseases by Open Targets association (of 155 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 |
|---|---|---|---|---|
| pneumothorax | 0.512 | — | common-variant locus | MR: beta=0.473, p=0.217 (trans) |
| pleural empyema | 0.512 | — | common-variant locus | no MR -> candidate analysis |
| urinary tract obstruction | 0.512 | — | common-variant locus | no MR -> candidate analysis |
| cartilage disease | 0.505 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.482 | — | common-variant locus | no MR -> candidate analysis |
| corneal ulcer | 0.48 | — | common-variant locus | no MR -> candidate analysis |
| medical procedure | 0.095 | — | common-variant locus | no MR -> candidate analysis |
| complication | 0.095 | — | common-variant locus | no MR -> candidate analysis |
| trauma complication | 0.095 | — | common-variant locus | no MR -> candidate analysis |
| lacrimal apparatus disorder | 0.074 | — | common-variant locus | no MR -> candidate analysis |
| secondary malignant neoplasm | 0.044 | — | common-variant locus | no MR -> candidate analysis |
Of the 12 rows above, 11 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=9.3e-15, LOEUF=0.958 — LoF-tolerant |
| GWAS Catalog | 25 unique SNPs / 44 rows |
| ClinVar | 122 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 155 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 ‘SLC5A8’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 122 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 15 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/Q8N695 — 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/ENSG00000256870/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SLC5A8 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SLC5A8 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SLC5A8%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SLC5A8 — GWAS Catalog search API (live; release not exposed)