Protein Dossier — SIGLEC14 (Sialic acid-binding Ig-like lectin 14)
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: N40 Hyperplasia of prostate |
0.0701 |
0.031 |
0.0239 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: osteoporosis |
0.0522 |
0.0243 |
0.0319 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Glaucoma |
-0.0587 |
0.0283 |
0.0384 |
Wald ratio |
1 |
cis |
NA |
| ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) |
-0.0205 |
0.0107 |
0.0547 |
Wald ratio |
1 |
cis |
NA |
| Cancer code self-reported: basal cell carcinoma |
-0.068 |
0.0357 |
0.0572 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision |
0.0728 |
0.0388 |
0.061 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms |
0.044 |
0.0249 |
0.0771 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
-0.047 |
0.028 |
0.0929 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Arm |
0.0477 |
0.0307 |
0.12 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K35 Acute appendicitis |
-0.0743 |
0.0495 |
0.134 |
Wald ratio |
1 |
cis |
NA |
| Amyotrophic lateral sclerosis |
0.0368 |
0.0246 |
0.134 |
Wald ratio |
1 |
cis |
NA |
| Amygdala volume |
-5.26 |
3.54 |
0.138 |
Wald ratio |
1 |
cis |
NA |
| …and 64 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5125_6_3 |
SIG14 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
11 association rows across 10 traits (10 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 |
| SIGLEC6 protein levels |
1e-66 |
rs4801885 |
1 |
GCST90470634 |
no MR -> candidate analysis |
| Sialic acid-binding Ig-like lectin 14 levels |
8e-41 |
rs201390621 |
1 |
GCST90249547 |
no MR -> candidate analysis |
| Sialic acid-binding Ig-like lectin 5 levels |
3e-20 |
rs201390621 |
2 |
GCST90249549 |
no MR -> candidate analysis |
| Calcium levels |
6e-14 |
rs2864908 |
1 |
GCST90018951 |
no MR -> candidate analysis |
| Sialic acid-binding Ig-like lectin 14 levels (SIGLEC14.8248. |
3e-13 |
rs201390621 |
1 |
GCST90242809 |
no MR -> candidate analysis |
| Dolichyl-diphosphooligosaccharide–protein glycosyltransfera |
1e-10 |
rs111304161 |
1 |
GCST90247251 |
no MR -> candidate analysis |
| Height |
2e-10 |
rs883551 |
1 |
GCST90435412 |
no MR -> candidate analysis |
| Platelet distribution width |
4e-10 |
rs11669500 |
1 |
GCST90002401 |
no MR -> candidate analysis |
| Monocyte count |
2e-9 |
rs11669500 |
1 |
GCST90002393 |
no MR -> candidate analysis |
| IgA nephropathy |
4e-6 |
rs2902877 |
1 |
GCST90308724 |
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 181 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 digestive system neoplasm |
0.112 |
— |
common-variant locus |
no MR -> candidate analysis |
| dentures |
0.109 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 2 rows above, 2 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 14) |
| gnomAD constraint |
pLI=0.95, LOEUF=0.532 — LoF-INTOLERANT |
| GWAS Catalog |
115 unique SNPs / 250 rows |
| ClinVar |
78 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 181 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 ‘SIGLEC14’ and resolved to ‘Sialic acid-binding Ig-like lectin 14’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 78 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 10 of 10 traits by best p-value, aggregated from 11 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/Q08ET2 — 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/ENSG00000254415/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4523280/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/SIGLEC14 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/SIGLEC14 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SIGLEC14%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/SIGLEC14 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:05:40 · 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