Protein Dossier — TF (Serotransferrin)
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 |
| Transferrin |
1.83 |
0.0471 |
0.00e+00 |
Wald ratio |
1 |
cis |
NA |
| Transferrin Saturation |
-0.414 |
0.0463 |
3.48e-19 |
Wald ratio |
1 |
cis |
NA |
| Iron |
0.323 |
0.0458 |
1.81e-12 |
Wald ratio |
1 |
cis |
NA |
| Mean cell haemoglobin |
-0.222 |
0.0463 |
1.66e-06 |
Wald ratio |
1 |
cis |
NA |
| Mean cell volume |
-0.474 |
0.118 |
5.67e-05 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: J33 Nasal polyp |
0.39 |
0.112 |
4.88e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced vital capacity (FVC) |
-0.0317 |
0.00919 |
5.62e-04 |
Wald ratio |
1 |
cis |
NA |
| Forced expiratory volume in 1-second (FEV1) |
-0.033 |
0.00969 |
6.71e-04 |
Wald ratio |
1 |
cis |
NA |
| Red blood cell count |
0.0273 |
0.0101 |
0.00703 |
Wald ratio |
1 |
cis |
NA |
| Ferritin |
-0.116 |
0.0432 |
0.00706 |
Wald ratio |
1 |
cis |
NA |
| Intracranial volume |
-2.22e+04 |
8.8e+03 |
0.0117 |
Wald ratio |
1 |
cis |
NA |
| Neo-extraversion |
0.878 |
0.356 |
0.0136 |
Wald ratio |
1 |
cis |
NA |
| …and 101 more outcomes (see JSON) |
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|
2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4162_54_2 |
Transferrin |
Suhre K |
2019 |
prot-c-4931_59_1 |
TF |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
219 association rows across 106 traits (211 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 |
| Iron status biomarkers (transferrin levels) |
8e-610 |
rs8177240 |
2 |
GCST002678 |
no MR -> candidate analysis |
| Iron status biomarkers (transferrin saturation) |
1e-323 |
rs6762719 |
5 |
GCST004572 |
no MR -> candidate analysis |
| Iron status biomarkers (total iron binding capacity) |
1e-323 |
rs6762719 |
3 |
GCST004571 |
no MR -> candidate analysis |
| total iron (mean, inv-norm transformed) |
4e-215 |
rs6762719 |
3 |
GCST90480712 |
no MR -> candidate analysis |
| total iron (minimum, inv-norm transformed) |
7e-205 |
rs6762719 |
3 |
GCST90480713 |
no MR -> candidate analysis |
| Total iron (maximum, inv-norm transformed) |
3e-197 |
rs6762719 |
4 |
GCST90480711 |
no MR -> candidate analysis |
| N-acetylated-alpha-linked acidic dipeptidase 2 levels |
5e-170 |
rs1049296 |
3 |
GCST90248595 |
no MR -> candidate analysis |
| Putamen iron levels (R2* MRI) |
2e-97 |
rs4428180 |
1 |
GCST90551870 |
no MR -> candidate analysis |
| Serum levels of protein NAALAD2 |
1e-80 |
rs1049296 |
2 |
GCST90089966 |
no MR -> candidate analysis |
| transferrin saturation (TSAT, mean, inv-norm transformed) |
2e-76 |
rs6762719 |
2 |
GCST90480721 |
no MR -> candidate analysis |
| Putamen iron levels (quantitative susceptibility mapping) |
7e-71 |
rs4428180 |
1 |
GCST90551869 |
no MR -> candidate analysis |
| THAP5 protein levels |
9e-69 |
rs1049296 |
2 |
GCST90453316 |
no MR -> candidate analysis |
| …and 94 more traits (see JSON) |
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|
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 1995 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 |
| atransferrinemia |
0.839 |
— |
established (curated) |
no MR -> candidate analysis |
| Congenital atransferrinemia |
0.608 |
— |
established (curated) |
no MR -> candidate analysis |
| hemochromatosis type 1 |
0.743 |
— |
common-variant locus |
no MR -> candidate analysis |
| alcohol drinking |
0.743 |
— |
common-variant locus |
no MR -> candidate analysis |
| urolithiasis |
0.472 |
— |
common-variant locus |
no MR -> candidate analysis |
| preeclampsia |
0.384 |
— |
common-variant locus |
no MR -> candidate analysis |
| Iron deficiency anemia |
0.182 |
— |
established (curated) |
no MR -> candidate analysis |
Of the 7 rows above, 7 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-12, LOEUF=0.836 — LoF-tolerant |
| GWAS Catalog |
104 unique SNPs / 201 rows |
| ClinVar |
522 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
1 clinical annotations across 1 drugs |
phenome — Top 30 of 1995 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 522 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 20 of 106 traits by best p-value, aggregated from 219 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/P02787 — 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/ENSG00000091513/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/TF — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/TF — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=TF%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=TF — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/TF — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T05:19:14 · 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: chembl