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: K80 Cholelithiasis | 0.285 | 0.0736 | 1.09e-04 | Wald ratio | 1 | trans | NA |
| Total cholesterol | -0.107 | 0.0283 | 1.61e-04 | Wald ratio | 1 | trans | NA |
| Bipolar disorder | 0.454 | 0.133 | 6.66e-04 | Wald ratio | 1 | trans | NA |
| LDL cholesterol | -0.0971 | 0.0293 | 9.36e-04 | Wald ratio | 1 | trans | NA |
| Systemic lupus erythematosus | 0.837 | 0.266 | 0.00168 | Wald ratio | 1 | trans | NA |
| Vascular or heart problems diagnosed by doctor: Angina | 0.175 | 0.066 | 0.00803 | Wald ratio | 1 | trans | NA |
| Serum creatinine (eGFRcrea) | -0.0128 | 0.00491 | 0.00909 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: I30 Acute pericarditis | 0.94 | 0.36 | 0.00909 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | 0.138 | 0.0542 | 0.0108 | Wald ratio | 1 | trans | NA |
| Fractured bone site(s): Arm | 0.264 | 0.109 | 0.0157 | Wald ratio | 1 | trans | NA |
| Knee osteoarthritis | 0.361 | 0.153 | 0.0182 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: B37 Candidiasis | 0.8 | 0.342 | 0.0192 | Wald ratio | 1 | trans | NA |
| …and 109 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
57 association rows across 39 traits (49 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 |
|---|---|---|---|---|---|
| Height | 2e-51 | rs1112195 | 4 | GCST90245848 | no MR -> candidate analysis |
| Intelligence | 2e-17 | rs6550835 | 7 | GCST006250 | MR: beta=-0.11, p=0.133 (trans) |
| Fluid intelligence score (baseline) | 3e-17 | rs10865793 | 1 | GCST90565842 | no MR -> candidate analysis |
| Attention deficit hyperactivity disorder or autism spectrum | 6e-17 | rs6550835 | 2 | GCST90134330 | no MR -> candidate analysis |
| Cognitive performance | 4e-16 | rs6550835 | 1 | GCST006572 | no MR -> candidate analysis |
| Personality traits or cognitive traits (multivariate analysi | 7e-16 | rs954734 | 1 | GCST90270074 | no MR -> candidate analysis |
| Cognitive aspects of educational attainment | 8e-16 | rs6550835 | 1 | GCST90011875 | no MR -> candidate analysis |
| Intelligence (MTAG) | 2e-15 | rs7431278 | 3 | GCST005316 | no MR -> candidate analysis |
| KLRB1 protein levels | 1e-14 | rs4619736 | 1 | GCST90469709 | no MR -> candidate analysis |
| Fluid intelligence | 3e-14 | rs6550835 | 3 | GCST90832687 | no MR -> candidate analysis |
| Highest math class taken (MTAG) | 9e-13 | rs5001573 | 1 | GCST006568 | no MR -> candidate analysis |
| General cognitive ability | 1e-12 | rs954734 | 2 | GCST006269 | no MR -> candidate analysis |
| …and 27 more traits (see JSON) |
Top diseases by Open Targets association (of 737 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 |
|---|---|---|---|---|
| mathematical ability | 0.62 | — | common-variant locus | no MR -> candidate analysis |
| intelligence | 0.469 | — | common-variant locus | MR: beta=-0.11, p=0.133 (trans) |
| escherichia coli infection | 0.462 | — | common-variant locus | no MR -> candidate analysis |
| familial atrioventricular septal defect | 0.426 | — | established (curated) | no MR -> candidate analysis |
| pneumonia | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| fungal lung infectious disease | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| allergic asthma | 0.395 | — | common-variant locus | no MR -> candidate analysis |
| liver disorder | 0.339 | — | common-variant locus | no MR -> candidate analysis |
| schizophrenia | 0.313 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.238 | — | common-variant locus | no MR -> candidate analysis |
| attention deficit-hyperactivity disorder | 0.199 | — | common-variant locus | no MR -> candidate analysis |
| autism spectrum disorder | 0.199 | — | common-variant locus | no MR -> candidate analysis |
| uterine corpus leiomyoma | 0.137 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.12 | — | common-variant locus | no MR -> candidate analysis |
| Uterine leiomyoma | 0.117 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 14 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 | 0 known modulators (Nuclear receptor subfamily 1 group D member 2) |
| gnomAD constraint | pLI=0.0052, LOEUF=0.668 — LoF-tolerant |
| GWAS Catalog | 58 unique SNPs / 116 rows |
| ClinVar | 111 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 737 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘NR1D2’ and resolved to ‘Nuclear receptor subfamily 1 group D member 2’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 111 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 39 traits by best p-value, aggregated from 57 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/Q14995 — 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/ENSG00000174738/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL1961784/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/NR1D2 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/NR1D2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=NR1D2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/NR1D2 — GWAS Catalog search API (live; release not exposed)