Protein Dossier — CST7 (Cystatin-F)
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 |
| Mean cell haemoglobin concentration |
-0.0146 |
0.00564 |
0.00984 |
Wald ratio |
1 |
cis |
NA |
| Fractured bone site(s): Other bones |
0.0393 |
0.0156 |
0.0119 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: K29 Gastritis and duodenitis |
0.0566 |
0.0229 |
0.0133 |
Wald ratio |
1 |
cis |
NA |
| Type 2 diabetes |
0.0764 |
0.0316 |
0.0155 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: R35 Polyuria |
-0.166 |
0.0711 |
0.0194 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: enlarged prostate |
0.0683 |
0.0299 |
0.0222 |
Wald ratio |
1 |
cis |
NA |
| Age at menopause |
0.118 |
0.0525 |
0.0244 |
Wald ratio |
1 |
cis |
NA |
| Sodium in urine |
-0.00805 |
0.00368 |
0.0288 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M23 Internal derangement of knee |
0.0506 |
0.0239 |
0.0344 |
Wald ratio |
1 |
cis |
NA |
| Eye problems or disorders: Injury or trauma resulting in loss of vision |
0.0927 |
0.0446 |
0.0376 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression |
-0.185 |
0.089 |
0.038 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders |
0.095 |
0.0464 |
0.0404 |
Wald ratio |
1 |
cis |
NA |
| …and 92 more outcomes (see JSON) |
|
|
|
|
|
|
|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-3302_58_1 |
CYTF |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
22 association rows across 13 traits (21 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 |
| Cystatin-F levels |
4e-296 |
rs76897221 |
3 |
GCST90247218 |
no MR -> candidate analysis |
| CST7 protein levels |
3e-233 |
rs146160238 |
5 |
GCST90468897 |
no MR -> candidate analysis |
| Cerebrospinal fluid protein CST7 levels |
5e-80 |
rs227653 |
1 |
GCST90944227 |
no MR -> candidate analysis |
| Cystatin-F levels (CST7.3302.58.1) |
6e-67 |
rs76897221 |
2 |
GCST90240832 |
no MR -> candidate analysis |
| APMAP protein levels |
7e-46 |
rs6050201 |
2 |
GCST90453381 |
no MR -> candidate analysis |
| Serum levels of protein CST7 |
5e-44 |
rs73112274 |
2 |
GCST90087734 |
no MR -> candidate analysis |
| Eosinophil side scatter |
2e-36 |
rs6050179 |
1 |
GCST90281230 |
no MR -> candidate analysis |
| Eosinophil side fluorescence |
2e-18 |
rs6050181 |
1 |
GCST90281231 |
no MR -> candidate analysis |
| Adipocyte plasma membrane-associated protein levels (APMAP.1 |
3e-15 |
rs73112274 |
1 |
GCST90240199 |
no MR -> candidate analysis |
| Eosinophil forward scatter |
4e-15 |
rs1056036 |
1 |
GCST90281232 |
no MR -> candidate analysis |
| Tyrosine-protein phosphatase non-receptor type 4 levels (PTP |
3e-13 |
rs227646 |
1 |
GCST90243219 |
no MR -> candidate analysis |
| C-reactive protein levels |
2e-9 |
rs2256027 |
1 |
GCST009777 |
no MR -> candidate analysis |
| …and 1 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 167 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 |
| obesity disorder |
0.415 |
— |
common-variant locus |
no MR -> candidate analysis |
| ovarian dysfunction |
0.389 |
— |
common-variant locus |
no MR -> candidate analysis |
| smoking initiation |
0.046 |
— |
common-variant locus |
no MR -> candidate analysis |
| frozen shoulder |
0.039 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 4 rows above, 4 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=1.8e-06, LOEUF=1.76 — LoF-tolerant |
| GWAS Catalog |
80 unique SNPs / 160 rows |
| ClinVar |
42 records; 6 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 167 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 ‘CST7’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 42 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 13 of 13 traits by best p-value, aggregated from 22 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/O76096 — 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/ENSG00000077984/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/CST7 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/CST7 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CST7%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/CST7 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:08:32 · 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