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: N81 Female genital prolapse | 0.164 | 0.0436 | 1.73e-04 | Wald ratio | 1 | cis | NA |
| Paget’s disease | -0.572 | 0.198 | 0.00394 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | -0.197 | 0.0899 | 0.0284 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | -0.0228 | 0.0108 | 0.0352 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K43 Ventral hernia | -0.254 | 0.121 | 0.0357 | Wald ratio | 1 | cis | NA |
| Rheumatoid arthritis | -0.0805 | 0.0403 | 0.0457 | Wald ratio | 1 | cis | NA |
| HbA1C | -0.0191 | 0.00986 | 0.0527 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: joint disorder | -0.22 | 0.113 | 0.0527 | Wald ratio | 1 | cis | NA |
| Mean cell haemoglobin | 0.0604 | 0.0314 | 0.0547 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | -0.0102 | 0.00531 | 0.0557 | Wald ratio | 1 | cis | NA |
| Transferrin Saturation | -0.0561 | 0.03 | 0.0615 | Wald ratio | 1 | cis | NA |
| Lumbar spine bone mineral density | 0.0398 | 0.0218 | 0.0677 | Wald ratio | 1 | cis | NA |
| …and 98 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
28 association rows across 18 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 |
|---|---|---|---|---|---|
| REG3G protein levels | 1e-292 | rs2861742 | 5 | GCST90470450 | no MR -> candidate analysis |
| Regenerating islet-derived protein 3-gamma levels | 1e-251 | rs2861742 | 4 | GCST90249276 | no MR -> candidate analysis |
| Serum levels of protein REG3G | 1e-117 | rs439914 | 2 | GCST90090648 | no MR -> candidate analysis |
| Blood protein levels | 9e-63 | rs429694 | 2 | GCST006585 | no MR -> candidate analysis |
| Regenerating islet-derived protein 3-gamma level in Chronic | 2e-41 | rs77167115 | 1 | GCST90234394 | no MR -> candidate analysis |
| REG1B protein levels | 6e-23 | rs34977007 | 2 | GCST90470448 | no MR -> candidate analysis |
| Bone mineral density mean | 9e-19 | rs72814698 | 1 | GCST90321120 | no MR -> candidate analysis |
| Serum levels of protein REG1A | 2e-16 | rs17753345 | 1 | GCST90087370 | no MR -> candidate analysis |
| Lithostathine-1-alpha levels | 1e-13 | rs6710164 | 1 | GCST90161283 | no MR -> candidate analysis |
| Alzheimer’s disease or family history of Alzheimer’s disease | 2e-12 | rs1439643019 | 1 | GCST90624094 | no MR -> candidate analysis |
| REG1A protein levels | 2e-11 | rs189958205 | 1 | GCST90470447 | no MR -> candidate analysis |
| Musculoskeletal symptoms referable to limbs (PheCode 771) | 2e-11 | rs371737875 | 1 | GCST90480576 | no MR -> candidate analysis |
| …and 6 more traits (see JSON) |
Top diseases by Open Targets association (of 269 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 |
|---|---|---|---|---|
| Anisometropia | 0.448 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.435 | — | common-variant locus | no MR -> candidate analysis |
| smoking initiation | 0.4 | — | common-variant locus | no MR -> candidate analysis |
| Alzheimer disease | 0.388 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hand | 0.386 | — | common-variant locus | no MR -> candidate analysis |
| musculoskeletal system disorder | 0.36 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.357 | — | common-variant locus | MR: beta=-0.0838, p=0.241 (cis) |
| attention deficit-hyperactivity disorder | 0.357 | — | common-variant locus | no MR -> candidate analysis |
| substance abuse | 0.357 | — | common-variant locus | no MR -> candidate analysis |
| bile duct disorder | 0.354 | — | common-variant locus | no MR -> candidate analysis |
| stroke disorder | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| cervical carcinoma | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| femoral neck fracture | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| hidradenitis | 0.346 | — | common-variant locus | no MR -> candidate analysis |
| ovarian dysfunction | 0.342 | — | 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 | not available — no ChEMBL target (undrugged) |
| gnomAD constraint | pLI=9e-07, LOEUF=1.34 — LoF-tolerant |
| GWAS Catalog | 42 unique SNPs / 83 rows |
| ClinVar | 65 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 269 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 ‘REG3G’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 65 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 18 of 18 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/Q6UW15 — 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/ENSG00000143954/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/REG3G — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/REG3G — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=REG3G%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/REG3G — GWAS Catalog search API (live; release not exposed)