Protein Dossier — HS6ST1 (Heparan-sulfate 6-O-sulfotransferase 1)
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 |
| Vascular or heart problems diagnosed by doctor: Angina |
-0.238 |
0.0796 |
0.00276 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0245 |
0.0114 |
0.0311 |
Wald ratio |
1 |
cis |
NA |
| Invasive mucinous ovarian cancer |
0.419 |
0.197 |
0.0334 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: uterine fibroids |
0.162 |
0.0768 |
0.0347 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.338 |
0.175 |
0.0537 |
Wald ratio |
1 |
cis |
NA |
| Rheumatoid arthritis |
-0.16 |
0.0873 |
0.0669 |
Wald ratio |
1 |
cis |
NA |
| Clear cell ovarian cancer |
0.361 |
0.198 |
0.0681 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
1.72e+04 |
9.45e+03 |
0.0688 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.148 |
0.0825 |
0.0736 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
-0.169 |
0.0957 |
0.0775 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
-0.0678 |
0.0398 |
0.0888 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M16 Coxarthrosis [arthrosis of hip] |
-0.192 |
0.114 |
0.0922 |
Wald ratio |
1 |
cis |
NA |
| …and 58 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4552_13_2 |
H6ST1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
46 association rows across 28 traits (37 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 |
| HS6ST1 protein levels |
2e-237 |
rs4630712 |
4 |
GCST90469479 |
no MR -> candidate analysis |
| Circulating HS6ST1 levels |
4e-237 |
rs13014395 |
4 |
GCST90860515 |
no MR -> candidate analysis |
| Heparan-sulfate 6-O-sulfotransferase 1 levels |
3e-72 |
rs13010149 |
4 |
GCST90247934 |
no MR -> candidate analysis |
| Height |
1e-50 |
rs6431009 |
4 |
GCST90245848 |
no MR -> candidate analysis |
| Serum alkaline phosphatase levels |
6e-43 |
rs200979099 |
1 |
GCST90019494 |
no MR -> candidate analysis |
| Serum phosphate levels |
7e-43 |
rs200979099 |
1 |
GCST90019516 |
no MR -> candidate analysis |
| Lymphocyte count |
5e-24 |
rs527692639 |
3 |
GCST90002388 |
no MR -> candidate analysis |
| Circulating PROC levels |
1e-20 |
rs541482999 |
1 |
GCST90860431 |
no MR -> candidate analysis |
| Serum levels of protein HS6ST1 |
2e-18 |
rs2084498 |
1 |
GCST90089046 |
no MR -> candidate analysis |
| Heparan-sulfate 6-O-sulfotransferase 1 levels (HS6ST1.5465.3 |
2e-18 |
rs34827544 |
1 |
GCST90241390 |
no MR -> candidate analysis |
| Lymphocyte percentage of white cells |
9e-15 |
rs527692639 |
1 |
GCST90002389 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
1e-14 |
rs71420836 |
2 |
GCST90838669 |
no MR -> candidate analysis |
| …and 16 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 957 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 |
| Kallmann syndrome |
0.815 |
— |
established (curated) |
no MR -> candidate analysis |
| hypogonadotropic hypogonadism |
0.49 |
— |
established (curated) |
no MR -> candidate analysis |
| diabetes mellitus |
0.509 |
— |
common-variant locus |
no MR -> candidate analysis |
| Hypercholesterolemia |
0.509 |
— |
common-variant locus |
MR: beta=-0.0418, p=0.183 (cis) |
| Abnormal lung morphology |
0.394 |
— |
common-variant locus |
no MR -> candidate analysis |
| mixed connective tissue disease |
0.387 |
— |
common-variant locus |
no MR -> candidate analysis |
| drug allergy |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
| male reproductive organ cancer |
0.354 |
— |
common-variant locus |
no MR -> candidate analysis |
| knee fracture |
0.346 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.336 |
— |
common-variant locus |
no MR -> candidate analysis |
| gallbladder disorder |
0.336 |
— |
common-variant locus |
no MR -> candidate analysis |
| type 1 diabetes nephropathy |
0.336 |
— |
common-variant locus |
no MR -> candidate analysis |
| urolithiasis |
0.336 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 13 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.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
not available — no ChEMBL target (undrugged) |
| gnomAD constraint |
pLI=1, LOEUF=0.308 — LoF-INTOLERANT |
| GWAS Catalog |
55 unique SNPs / 106 rows |
| ClinVar |
208 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 957 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 ‘HS6ST1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 208 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 28 traits by best p-value, aggregated from 46 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/O60243 — 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/ENSG00000136720/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/HS6ST1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/HS6ST1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=HS6ST1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/HS6ST1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T03:02:40 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none