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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.213 | 0.064 | 8.85e-04 | Wald ratio | 1 | cis | NA |
| Transferrin Saturation | 0.0816 | 0.0312 | 0.00902 | Wald ratio | 1 | cis | NA |
| Weight | 0.0163 | 0.00656 | 0.0132 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I80 Phlebitis and thrombophlebitis | 0.204 | 0.0896 | 0.0227 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis | -0.238 | 0.111 | 0.0321 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M72 Fibroblastic disorders | 0.179 | 0.0853 | 0.0359 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: arthritis (nos) | 0.15 | 0.0741 | 0.043 | Wald ratio | 1 | cis | NA |
| Iron | 0.0629 | 0.0312 | 0.0441 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pulmonary embolism (with or without) dvt | 0.142 | 0.0719 | 0.0487 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.0607 | 0.0311 | 0.0511 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: uterine fibroids | -0.133 | 0.0689 | 0.0541 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertension | -0.0244 | 0.013 | 0.0601 | Wald ratio | 1 | cis | NA |
| …and 93 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
19 association rows across 17 traits (11 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 |
|---|---|---|---|---|---|
| MANSC domain-containing protein 1 levels | 3e-152 | rs56829405 | 1 | GCST90248400 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 1e-45 | rs7974474 | 1 | GCST90838669 | no MR -> candidate analysis |
| MANSC domain-containing protein 1 levels (MANSC1.9557.5.3) | 9e-42 | rs2160588 | 1 | GCST90241875 | no MR -> candidate analysis |
| Serum levels of protein MANSC1 | 1e-37 | rs2160588 | 1 | GCST90090750 | no MR -> candidate analysis |
| Blood protein levels | 2e-19 | rs61922044 | 1 | GCST006585 | no MR -> candidate analysis |
| Cerebrospinal fluid biomarker levels | 7e-13 | rs3741798 | 1 | GCST004000 | no MR -> candidate analysis |
| MANSC1 protein levels | 1e-11 | rs3053800 | 1 | GCST90469847 | no MR -> candidate analysis |
| Height | 3e-10 | rs78807762 | 1 | GCST007841 | MR: beta=0.0119, p=0.202 (cis) |
| Creatinine levels in top 1% of individuals by creatinine lev | 2e-9 | rs117489454 | 1 | GCST90566751 | no MR -> candidate analysis |
| Femur bone mineral density x serum urate levels interaction | 6e-9 | rs61922051 | 1 | GCST012490 | no MR -> candidate analysis |
| Height (baseline) | 4e-8 | rs57725255 | 1 | GCST90565843 | no MR -> candidate analysis |
| Glioblastoma | 1e-7 | rs184523096 | 2 | GCST90296481 | no MR -> candidate analysis |
| …and 5 more traits (see JSON) |
Top diseases by Open Targets association (of 53 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 |
|---|---|---|---|---|
| hypothyroidism | 0.077 | — | common-variant locus | MR: beta=0.0607, p=0.0511 (cis) |
| Alzheimer disease | 0.06 | — | common-variant locus | no MR -> candidate analysis |
| atrial fibrillation | 0.061 | — | common-variant locus | MR: beta=0.0774, p=0.237 (cis) |
| asthma | 0.054 | — | common-variant locus | no MR -> candidate analysis |
| colorectal cancer | 0.053 | — | common-variant locus | no MR -> candidate analysis |
| acne | 0.048 | — | common-variant locus | no MR -> candidate analysis |
| Cerebral degeneration | 0.046 | — | common-variant locus | no MR -> candidate analysis |
| adolescent idiopathic scoliosis | 0.043 | — | common-variant locus | no MR -> candidate analysis |
| androgenetic alopecia | 0.039 | — | common-variant locus | no MR -> candidate analysis |
Of the 9 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=5.1e-05, LOEUF=1.46 — LoF-tolerant |
| GWAS Catalog | 58 unique SNPs / 116 rows |
| ClinVar | 128 records; 4 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 53 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 ‘MANSC1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 128 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 17 of 17 traits by best p-value, aggregated from 19 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/Q9H8J5 — 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/ENSG00000111261/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/MANSC1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/MANSC1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MANSC1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MANSC1 — GWAS Catalog search API (live; release not exposed)