MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.241 | 0.0721 | 8.18e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.302 | 0.0986 | 0.00219 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: emphysema or chronic bronchitis | 0.254 | 0.0946 | 0.00736 | Wald ratio | 1 | cis | NA |
| Happiness | 0.0439 | 0.0173 | 0.011 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | -0.432 | 0.174 | 0.0131 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I48 Atrial fibrillation and flutter | 0.254 | 0.104 | 0.0142 | Wald ratio | 1 | cis | NA |
| Ovarian cancer | -0.196 | 0.082 | 0.0168 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: migraine | -0.203 | 0.0999 | 0.0421 | Wald ratio | 1 | cis | NA |
| Depressive symptoms | 0.0465 | 0.0233 | 0.0455 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | -0.261 | 0.133 | 0.05 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.0767 | 0.0395 | 0.0522 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | -0.196 | 0.104 | 0.0597 | Wald ratio | 1 | cis | NA |
| …and 69 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
28 association rows across 23 traits (23 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 |
|---|---|---|---|---|---|
| Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC levels | 7e-78 | rs2072748 | 3 | GCST90248374 | no MR -> candidate analysis |
| Height | 5e-63 | rs807250 | 2 | GCST90245848 | no MR -> candidate analysis |
| Circulating ASAH2 levels | 2e-51 | rs11247595 | 1 | GCST90859724 | no MR -> candidate analysis |
| ASAH2 protein levels | 6e-46 | rs12032634 | 1 | GCST90468374 | no MR -> candidate analysis |
| Serum levels of protein MAN1C1 | 4e-21 | rs12032634 | 1 | GCST90087434 | no MR -> candidate analysis |
| ICAM4 protein levels | 1e-20 | rs181721303 | 2 | GCST90469501 | no MR -> candidate analysis |
| EXTL1 protein levels | 1e-20 | rs1971442 | 2 | GCST90469161 | no MR -> candidate analysis |
| Circulating IL1RL2 levels | 6e-19 | rs11247595 | 1 | GCST90859762 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 1e-18 | rs2982315 | 1 | GCST90838669 | no MR -> candidate analysis |
| EGFL7 protein levels | 8e-18 | rs78945826 | 1 | GCST90469083 | no MR -> candidate analysis |
| Blood protein levels | 9e-14 | rs3767879 | 1 | GCST006585 | no MR -> candidate analysis |
| Circulating IL18R1 levels | 9e-14 | rs11247595 | 1 | GCST90859873 | no MR -> candidate analysis |
| …and 11 more traits (see JSON) |
Top diseases by Open Targets association (of 86 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 |
|---|---|---|---|---|
| placenta praevia | 0.404 | — | common-variant locus | no MR -> candidate analysis |
| influenza A (H1N1) | 0.396 | — | common-variant locus | no MR -> candidate analysis |
| diabetes mellitus | 0.362 | — | common-variant locus | no MR -> candidate analysis |
| type 2 diabetes mellitus | 0.362 | — | common-variant locus | no MR -> candidate analysis |
| Hypercholesterolemia | 0.308 | — | common-variant locus | no MR -> candidate analysis |
| Crohn disease | 0.066 | — | common-variant locus | no MR -> candidate analysis |
| preeclampsia | 0.04 | — | common-variant locus | 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.
| Layer | Result |
|---|---|
| ChEMBL druggability | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=1.3e-11, LOEUF=0.869 — LoF-tolerant |
| GWAS Catalog | 84 unique SNPs / 168 rows |
| ClinVar | 123 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 86 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 ‘MAN1C1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 123 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 23 traits by best p-value, aggregated from 28 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q9NR34 — 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/ENSG00000117643/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/MAN1C1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MAN1C1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MAN1C1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MAN1C1 — GWAS Catalog search API (live; release not exposed)