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: K80 Cholelithiasis | -0.508 | 0.106 | 1.65e-06 | Wald ratio | 1 | cis | NA |
| Fasting proinsulin | -0.0778 | 0.0264 | 0.0032 | Wald ratio | 1 | cis | NA |
| Bulimia nervosa | -0.0806 | 0.0278 | 0.00373 | Wald ratio | 1 | cis | NA |
| Triglycerides | 0.05 | 0.0175 | 0.00427 | Wald ratio | 1 | cis | NA |
| Total cholesterol | 0.0508 | 0.0192 | 0.008 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S66 Injury of muscle and tendon at wrist and hand level | 0.389 | 0.158 | 0.014 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0556 | 0.0233 | 0.0173 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation | 0.132 | 0.0554 | 0.0175 | Wald ratio | 1 | cis | NA |
| Lung adenocarcinoma | 0.22 | 0.0931 | 0.018 | Wald ratio | 1 | cis | NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0642 | 0.0278 | 0.0209 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Arm | 0.176 | 0.0768 | 0.0219 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0177 | 0.00782 | 0.0233 | Wald ratio | 1 | cis | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
229 association rows across 155 traits (219 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 |
|---|---|---|---|---|---|
| X-11440 levels | 1e-543 | rs62129966 | 3 | GCST90245492 | no MR -> candidate analysis |
| Pregnen-diol disulfate levels | 3e-478 | rs212100 | 2 | GCST90245384 | no MR -> candidate analysis |
| Circulating SULT2A1 levels | 1e-410 | rs212100 | 2 | GCST90860542 | no MR -> candidate analysis |
| 4-androsten-3beta,17beta-diol disulfate (1) levels | 2e-320 | rs212100 | 2 | GCST90245055 | no MR -> candidate analysis |
| 4-androsten-3alpha,17alpha-diol monosulfate (3) levels | 5e-240 | rs212100 | 2 | GCST90245054 | no MR -> candidate analysis |
| 4-androsten-3alpha,17alpha-diol monosulfate (2) levels | 2e-210 | rs62129966 | 1 | GCST90245053 | no MR -> candidate analysis |
| Pregnenetriol disulfate levels | 4e-205 | rs62129966 | 2 | GCST90200238 | no MR -> candidate analysis |
| X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio | 3e-191 | rs2547231 | 1 | GCST90243927 | no MR -> candidate analysis |
| X-21470 levels | 3e-183 | rs62129966 | 2 | GCST90245682 | no MR -> candidate analysis |
| Pregnenediol disulfate (C21H34O8S2) levels | 2e-180 | rs62129966 | 1 | GCST90199840 | no MR -> candidate analysis |
| Pregnenetriol disulfate (X-11440) levels | 6e-168 | rs112285002 | 1 | GCST90103155 | no MR -> candidate analysis |
| Glycochenodeoxycholate sulfate levels | 1e-150 | rs62129966 | 2 | GCST90245229 | no MR -> candidate analysis |
| …and 143 more traits (see JSON) |
Top diseases by Open Targets association (of 347 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 |
|---|---|---|---|---|
| cholelithiasis | 0.873 | — | common-variant locus | MR: beta=-0.508, p=1.65e-06 (cis) |
| gallstones | 0.791 | — | common-variant locus | no MR -> candidate analysis |
| Intrahepatic cholestasis of pregnancy | 0.757 | — | common-variant locus | no MR -> candidate analysis |
| Cholecystitis | 0.718 | — | common-variant locus | no MR -> candidate analysis |
| cholestasis, intrahepatic, of pregnancy 3 | 0.561 | — | common-variant locus | no MR -> candidate analysis |
| gallbladder disorder | 0.546 | — | common-variant locus | no MR -> candidate analysis |
| vitamin D deficiency | 0.519 | — | common-variant locus | no MR -> candidate analysis |
| digestive system disorder | 0.518 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.495 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.47 | — | common-variant locus | no MR -> candidate analysis |
| breast disorder | 0.389 | — | common-variant locus | no MR -> candidate analysis |
| vitamin deficiency disorder | 0.116 | — | 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 | 0 known modulators (Sulfotransferase 2A1) |
| gnomAD constraint | pLI=3.3e-18, LOEUF=1.64 — LoF-tolerant |
| GWAS Catalog | 105 unique SNPs / 236 rows |
| ClinVar | 59 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 347 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘SULT2A1’ and resolved to ‘Sulfotransferase 2A1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 59 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 155 traits by best p-value, aggregated from 229 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/Q06520 — 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/ENSG00000105398/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2077/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SULT2A1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SULT2A1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SULT2A1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SULT2A1 — GWAS Catalog search API (live; release not exposed)