Protein Dossier — SIGLEC7 (Sialic acid-binding Ig-like lectin 7)
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 |
| Diagnoses - main ICD10: I84 Haemorrhoids |
0.146 |
0.0458 |
0.00147 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R55 Syncope and collapse |
0.207 |
0.0714 |
0.00371 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M54 Dorsalgia |
-0.189 |
0.0778 |
0.015 |
Wald ratio |
1 |
cis |
NA |
| High grade serous ovarian cancer |
0.153 |
0.0633 |
0.0158 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: C61 Malignant neoplasm of prostate |
0.184 |
0.0847 |
0.03 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G47 Sleep disorders |
0.192 |
0.0894 |
0.0313 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal |
0.128 |
0.0614 |
0.0371 |
Wald ratio |
1 |
cis |
NA |
| Endometrioid ovarian cancer |
-0.226 |
0.109 |
0.0385 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities |
0.107 |
0.0518 |
0.0396 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K43 Ventral hernia |
0.208 |
0.102 |
0.0407 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages |
0.195 |
0.0952 |
0.0409 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: G56 Mononeuropathies of upper limb |
0.113 |
0.0561 |
0.0441 |
Wald ratio |
1 |
cis |
NA |
| …and 48 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-2742_68_2 |
Siglec-7 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
27 association rows across 9 traits (27 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 |
| Circulating SIGLEC7 levels |
3e-594 |
rs140185670 |
3 |
GCST90860368 |
no MR -> candidate analysis |
| CD33 protein levels |
4e-204 |
rs140185670 |
7 |
GCST90468625 |
no MR -> candidate analysis |
| Sialic acid-binding Ig-like lectin 7 levels |
1e-126 |
rs140185670 |
7 |
GCST90249551 |
no MR -> candidate analysis |
| SIGLEC7 protein levels |
2e-64 |
rs77067043 |
2 |
GCST90470635 |
no MR -> candidate analysis |
| Sialic acid-binding Ig-like lectin 7 levels (SIGLEC7.2742.68 |
2e-36 |
rs140185670 |
1 |
GCST90242811 |
no MR -> candidate analysis |
| SIGLEC9 protein levels |
1e-27 |
rs141544900 |
4 |
GCST90470637 |
no MR -> candidate analysis |
| KLK13 protein levels |
9e-23 |
rs3793436 |
1 |
GCST90469699 |
no MR -> candidate analysis |
| Serum levels of protein SIGLEC7 |
2e-16 |
rs137953543 |
1 |
GCST90088042 |
no MR -> candidate analysis |
| Myeloid cell surface antigen CD33 levels |
2e-12 |
rs117658654 |
1 |
GCST90161642 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 88 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 |
| benign urinary system neoplasm |
0.092 |
— |
common-variant locus |
no MR -> candidate analysis |
| benign neoplasm |
0.086 |
— |
common-variant locus |
MR: beta=0.128, p=0.0371 (cis) |
Of the 2 rows above, 1 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 (Sialic acid-binding Ig-like lectin 7) |
| gnomAD constraint |
pLI=8.2e-10, LOEUF=1.08 — LoF-tolerant |
| GWAS Catalog |
155 unique SNPs / 396 rows |
| ClinVar |
93 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 88 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 ‘SIGLEC7’ and resolved to ‘Sialic acid-binding Ig-like lectin 7’ — confirm this is the intended target.
clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 93 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 9 of 9 traits by best p-value, aggregated from 27 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/Q9Y286 — 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 v3.0
phenome: https://platform.opentargets.org/target/ENSG00000168995/associations — Open Targets data release 26.06
chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3603730/ — ChEMBL_37 (released 2026-05-01)
gnomad: https://gnomad.broadinstitute.org/gene/SIGLEC7 — gnomAD constraint via GraphQL API (reference genome GRCh38)
gwas: https://www.ebi.ac.uk/gwas/genes/SIGLEC7 — GWAS Catalog REST (live; release not exposed by this endpoint)
clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SIGLEC7%5Bgene%5D — ClinVar build Build260809-1055.1
gwas_traits: https://www.ebi.ac.uk/gwas/genes/SIGLEC7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:06:18 · 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