CausalSentinel

Protein Dossier — SVEP1 (Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 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
Diagnoses - main ICD10: B37 Candidiasis	0.598	0.144	3.40e-05	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: B37 Candidiasis	0.598	0.144	3.40e-05	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus	0.163	0.0424	1.22e-04	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus	0.163	0.0424	1.22e-04	Inverse variance weighted	2	trans	NA
Forced expiratory volume in 1-second (FEV1)	-0.0121	0.00464	0.00947	Inverse variance weighted	2	cis	NA
Forced expiratory volume in 1-second (FEV1)	-0.0121	0.00464	0.00947	Inverse variance weighted	2	trans	NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm)	0.594	0.252	0.0186	Inverse variance weighted	2	cis	NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm)	0.594	0.252	0.0186	Inverse variance weighted	2	trans	NA
Body mass index (BMI)	-0.012	0.00536	0.0246	Inverse variance weighted	2	cis	NA
Body mass index (BMI)	-0.012	0.00536	0.0246	Inverse variance weighted	2	trans	NA
Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages	0.145	0.0648	0.0251	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages	0.145	0.0648	0.0251	Inverse variance weighted	2	trans	NA
…and 120 more outcomes (see JSON)

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

164 association rows across 95 traits (130 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
Sushi, von Willebrand factor type A, EGF and pentraxin domai	6e-162	rs61751937	6	GCST90249743	no MR -> candidate analysis
Sushi, von Willebrand factor type A, EGF and pentraxin domai	5e-64	rs61751937	5	GCST90242928	no MR -> candidate analysis
Serum levels of protein SVEP1	2e-56	rs78742138	5	GCST90086591	no MR -> candidate analysis
Platelet distribution width (UKB data field 30110)	5e-40	rs61751937	1	GCST90468097	no MR -> candidate analysis
Sushi, von Willebrand factor type A, EGF and pentraxin domai	1e-37	rs28431893	1	GCST90421350	no MR -> candidate analysis
Height	1e-32	rs4317650	3	GCST90245848	no MR -> candidate analysis
Platelet distribution width	5e-29	rs61751937	3	GCST90002401	no MR -> candidate analysis
Platelet count	7e-28	rs2274483	7	GCST90662907	no MR -> candidate analysis
Blood protein levels	8e-28	rs78742138	2	GCST006585	no MR -> candidate analysis
Mean platelet thrombocyte volume (UKB data field 30100)	6e-26	rs61751937	2	GCST90468087	no MR -> candidate analysis
Sushi, von Willebrand factor type A, EGF and pentraxin domai	2e-23	rs28431893	1	GCST90421308	no MR -> candidate analysis
Systolic blood pressure	2e-21	rs10759426	9	GCST90310294	no MR -> candidate analysis
…and 83 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 361 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
hypertensive disorder	0.884	—	common-variant locus	no MR -> candidate analysis
coronary artery disorder	0.801	—	common-variant locus	no MR -> candidate analysis
essential hypertension	0.798	—	common-variant locus	no MR -> candidate analysis
cardiovascular disorder	0.717	—	common-variant locus	no MR -> candidate analysis
Increased blood pressure	0.707	—	common-variant locus	no MR -> candidate analysis
open-angle glaucoma	0.578	—	common-variant locus	no MR -> candidate analysis
glaucoma	0.56	—	common-variant locus	MR: beta=0.171, p=0.0255 (cis)
coronary atherosclerosis	0.558	—	common-variant locus	no MR -> candidate analysis
spermatogenic failure	0.509	—	common-variant locus	no MR -> candidate analysis
chronic venous hypertension	0.482	—	common-variant locus	no MR -> candidate analysis
retinal drusen	0.416	—	common-variant locus	no MR -> candidate analysis
dermatitis	0.397	—	common-variant locus	no MR -> candidate analysis
gastritis	0.39	—	common-variant locus	MR: beta=0.0491, p=0.138 (cis)
heart disorder	0.233	—	common-variant locus	no MR -> candidate analysis
retinal disorder	0.218	—	common-variant locus	no MR -> candidate analysis

Of the 15 rows above, 13 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=8.7e-09, LOEUF=0.508 — LoF-tolerant
GWAS Catalog	111 unique SNPs / 218 rows
ClinVar	597 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 361 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 ‘SVEP1’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 597 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 95 traits by best p-value, aggregated from 164 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/Q4LDE5 — 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/ENSG00000165124/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/SVEP1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/SVEP1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SVEP1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/SVEP1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T05:17:16 · 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

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