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 |
|---|---|---|---|---|---|---|---|
| Eczema | -0.608 | 0.105 | 6.92e-09 | Wald ratio | 1 | trans | 0.283 |
| Non-cancer illness code self-reported: asthma | -0.258 | 0.0535 | 1.38e-06 | Wald ratio | 1 | trans | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.179 | 0.0374 | 1.79e-06 | Wald ratio | 1 | trans | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.199 | 0.0447 | 8.10e-06 | Wald ratio | 1 | trans | NA |
| Pulse rate | -0.0839 | 0.0259 | 0.00118 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | -0.0493 | 0.0191 | 0.00967 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux | 0.157 | 0.0608 | 0.00979 | Wald ratio | 1 | trans | NA |
| Primary sclerosing cholangitis | -0.542 | 0.218 | 0.0128 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis | -0.316 | 0.133 | 0.018 | Wald ratio | 1 | trans | NA |
| Thalamus volume | 84.3 | 37.7 | 0.0251 | Wald ratio | 1 | trans | NA |
| Weight | 0.0274 | 0.013 | 0.0348 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | 0.284 | 0.135 | 0.0352 | Wald ratio | 1 | trans | NA |
| …and 59 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
38 association rows across 23 traits (15 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 |
|---|---|---|---|---|---|
| Adolescent idiopathic scoliosis | 5e-13 | rs7664918 | 1 | GCST006287 | no MR -> candidate analysis |
| Cigarettes smoked per day | 3e-11 | rs10004736 | 3 | GCST90243987 | no MR -> candidate analysis |
| Refractive error | 2e-10 | rs13119304 | 3 | GCST90841196 | no MR -> candidate analysis |
| Free Cholesterol to Cholesteryl Esters in Large HDL ratio | 3e-10 | rs75236220 | 1 | GCST90827800 | no MR -> candidate analysis |
| Estimated glomerular filtration rate | 2e-9 | rs11722932 | 1 | GCST90019506 | no MR -> candidate analysis |
| Height | 2e-9 | rs6819984 | 1 | GCST90662911 | no MR -> candidate analysis |
| Serum creatinine levels | 3e-9 | rs74464322 | 1 | GCST90018979 | no MR -> candidate analysis |
| Creatinine levels | 5e-9 | rs11722932 | 2 | GCST90019502 | no MR -> candidate analysis |
| Facial appearance | 8e-9 | rs60442375 | 1 | GCST90128425 | no MR -> candidate analysis |
| Memory decline (excluding comorbidities) | 2e-8 | rs6848524 | 6 | GCST90448862 | no MR -> candidate analysis |
| Longevity | 3e-7 | rs1487614 | 1 | GCST003425 | no MR -> candidate analysis |
| Systolic blood pressure (baseline) | 4e-7 | rs112586322 | 2 | GCST011891 | no MR -> candidate analysis |
| …and 11 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 |
|---|---|---|---|---|
| facial morphology | 0.513 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.44 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.12 | — | common-variant locus | no MR -> candidate analysis |
| self-injurious ideation | 0.093 | — | common-variant locus | no MR -> candidate analysis |
| secondary malignant neoplasm | 0.077 | — | common-variant locus | no MR -> candidate analysis |
| connective tissue disorder | 0.046 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.04 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.04 | — | common-variant locus | no MR -> candidate analysis |
| adolescent idiopathic scoliosis | 0.039 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 rows above, 9 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=6.4e-05, LOEUF=1.2 — LoF-tolerant |
| GWAS Catalog | 51 unique SNPs / 65 rows |
| ClinVar | 62 records; 0 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 ‘SHISA3’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 62 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 23 traits by best p-value, aggregated from 38 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/A0PJX4 — 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/ENSG00000178343/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/SHISA3 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SHISA3 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SHISA3%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SHISA3 — GWAS Catalog search API (live; release not exposed)