CausalSentinel

Protein Dossier — EVA1C (Protein eva-1 homolog C)

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: K80 Cholelithiasis	0.00245	0.000697	4.40e-04	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: K80 Cholelithiasis	0.00245	0.000697	4.40e-04	Inverse variance weighted	2	trans	NA
Hippocampus volume	-86.6	28.3	0.0022	Wald ratio	1	cis	NA
Non-cancer illness code self-reported: hypertension	0.00567	0.00214	0.00817	Inverse variance weighted	2	cis	NA
Non-cancer illness code self-reported: hypertension	0.00567	0.00214	0.00817	Inverse variance weighted	2	trans	NA
Hearing difficulty or problems: Yes	-0.0054	0.00219	0.0134	Inverse variance weighted	2	cis	NA
Hearing difficulty or problems: Yes	-0.0054	0.00219	0.0134	Inverse variance weighted	2	trans	NA
Neo-extraversion	-1.2	0.492	0.0146	Wald ratio	1	cis	NA
Diastolic blood pressure automated reading	0.0112	0.00495	0.0233	Inverse variance weighted	2	cis	NA
Diastolic blood pressure automated reading	0.0112	0.00495	0.0233	Inverse variance weighted	2	trans	NA
Thalamus volume	-85.1	37.7	0.024	Wald ratio	1	cis	NA
Diagnoses - main ICD10: M72 Fibroblastic disorders	0.000812	0.000363	0.0254	Inverse variance weighted	2	cis	NA
…and 178 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

30 association rows across 21 traits (16 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
Protein eva-1 homolog C levels	8e-35	rs34028712	1	GCST90248935	no MR -> candidate analysis
Height	2e-25	rs9982003	3	GCST90245848	MR: beta=-0.0246, p=0.0822 (cis)
Serum levels of protein EVA1C	4e-18	rs59652870	1	GCST90090356	no MR -> candidate analysis
Blood protein levels	2e-12	rs6517101	1	GCST006585	no MR -> candidate analysis
Protein eva-1 homolog C levels (EVA1C.7008.13.3)	6e-12	rs6517101	1	GCST90242442	no MR -> candidate analysis
Gamma glutamyl transferase levels	7e-11	rs78732220	2	GCST90662899	no MR -> candidate analysis
Systolic blood pressure (MTAG)	5e-10	rs2833834	1	GCST90449056	no MR -> candidate analysis
Systolic blood pressure	8e-10	rs11701033	4	GCST90310294	no MR -> candidate analysis
Liver enzyme levels (gamma-glutamyl transferase)	1e-9	rs35933282	1	GCST90013407	no MR -> candidate analysis
Height (baseline)	2e-9	rs8127011	1	GCST90565843	no MR -> candidate analysis
Gamma glutamyl transpeptidase	1e-8	rs35933282	1	GCST90018954	no MR -> candidate analysis
Intraocular pressure	3e-8	rs77135980	1	GCST010376	no MR -> candidate analysis
…and 9 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 62 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
Abnormality of the skeletal system	0.779	—	common-variant locus	no MR -> candidate analysis
glaucoma	0.457	—	common-variant locus	MR: beta=0.00322, p=0.139 (cis)
aortic valve stenosis	0.416	—	common-variant locus	no MR -> candidate analysis
tympanic membrane disorder	0.397	—	common-variant locus	no MR -> candidate analysis
ovarian neoplasm	0.052	—	common-variant locus	no MR -> candidate analysis
mixed connective tissue disease	0.043	—	common-variant locus	no MR -> candidate analysis
male infertility	0.039	—	common-variant locus	no MR -> candidate analysis
squamous cell carcinoma	0.034	—	common-variant locus	no MR -> candidate analysis

Of the 8 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=0.00017, LOEUF=0.769 — LoF-tolerant
GWAS Catalog	26 unique SNPs / 52 rows
ClinVar	138 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 62 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 ‘EVA1C’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 138 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 21 traits by best p-value, aggregated from 30 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/P58658 — 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/ENSG00000166979/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/EVA1C — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/EVA1C — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=EVA1C%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/EVA1C — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T02:29:58 · 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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