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 |
|---|---|---|---|---|---|---|---|
| Body mass index (BMI) | -0.0395 | 0.00759 | 1.86e-07 | Wald ratio | 1 | cis | 0.886 |
| Age at menarche | 0.0695 | 0.018 | 1.10e-04 | Wald ratio | 1 | cis | NA |
| Weight | -0.0243 | 0.0067 | 2.84e-04 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: mania or bipolar disorder or manic depression | 0.341 | 0.107 | 0.00148 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: psoriasis | -0.313 | 0.0988 | 0.00154 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I83 Varicose veins of lower extremities | 0.145 | 0.0459 | 0.00162 | Wald ratio | 1 | cis | NA |
| Thalamus volume | 60.5 | 19.5 | 0.00193 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0327 | 0.0112 | 0.00355 | Wald ratio | 1 | cis | NA |
| Nucleus accumbens volume | 9.32 | 3.38 | 0.00583 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hayfever or allergic rhinitis | 0.0785 | 0.0289 | 0.00654 | Wald ratio | 1 | cis | NA |
| Thyroid cancer | 0.694 | 0.264 | 0.00842 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis | 0.157 | 0.0616 | 0.0109 | Wald ratio | 1 | cis | NA |
| …and 100 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
24 association rows across 16 traits (22 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 |
|---|---|---|---|---|---|
| Regulator of microtubule dynamics protein 1 levels | 4e-346 | rs10106141 | 2 | GCST90426906 | no MR -> candidate analysis |
| Blood protein levels | 5e-313 | rs7459897 | 1 | GCST006585 | no MR -> candidate analysis |
| Lignoceroylcarnitine (C24) levels | 3e-53 | rs1135451 | 1 | GCST90140115 | no MR -> candidate analysis |
| Height | 3e-46 | rs7006629 | 1 | GCST90245848 | MR: beta=0.0224, p=0.0144 (cis) |
| Plasma lignoceroylcarnitine (C24)* levels in chronic kidney | 3e-36 | rs6985066 | 1 | GCST90265446 | no MR -> candidate analysis |
| Nervonoylcarnitine (C24:1) levels | 3e-33 | rs35354130 | 1 | GCST90200143 | no MR -> candidate analysis |
| Behenoylcarnitine (C22) levels | 1e-20 | rs35354130 | 2 | GCST90200127 | no MR -> candidate analysis |
| Plasma cerotoylcarnitine (C26)* levels in chronic kidney dis | 6e-14 | rs13042 | 1 | GCST90264911 | no MR -> candidate analysis |
| Plasma nervonoylcarnitine (C24:1)* levels in chronic kidney | 1e-12 | rs7007055 | 1 | GCST90265717 | no MR -> candidate analysis |
| Body mass index | 1e-11 | rs7006629 | 7 | GCST90255621 | MR: beta=-0.0395, p=1.86e-07 (cis) |
| Cortical surface area | 2e-10 | rs60694690 | 1 | GCST90091060 | no MR -> candidate analysis |
| Body mass index (MTAG) | 4e-10 | rs12546331 | 1 | GCST90179150 | no MR -> candidate analysis |
| …and 4 more traits (see JSON) |
Top diseases by Open Targets association (of 41 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 |
|---|---|---|---|---|
| intelligence | 0.55 | — | common-variant locus | MR: beta=-0.0423, p=0.295 (cis) |
| arthropathy | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.344 | — | common-variant locus | no MR -> candidate analysis |
| Varicose veins | 0.194 | — | common-variant locus | MR: beta=0.145, p=0.00162 (cis) |
| gout | 0.088 | — | common-variant locus | no MR -> candidate analysis |
| spondylolisthesis | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| musculoskeletal system disorder | 0.057 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.036 | — | common-variant locus | no MR -> candidate analysis |
| Abnormality of refraction | 0.036 | — | 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=1.4e-16, LOEUF=1.25 — LoF-tolerant |
| GWAS Catalog | 44 unique SNPs / 88 rows |
| ClinVar | 101 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 41 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 ‘RMDN1’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 101 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 16 of 16 traits by best p-value, aggregated from 24 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/Q96DB5 — 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/ENSG00000176623/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/RMDN1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/RMDN1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=RMDN1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/RMDN1 — GWAS Catalog search API (live; release not exposed)