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 |
|---|---|---|---|---|---|---|---|
| Eczema | 0.148 | 0.0586 | 0.0114 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K40 Inguinal hernia | 0.099 | 0.0404 | 0.0142 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: I30 Acute pericarditis | 0.593 | 0.247 | 0.0161 | Wald ratio | 1 | cis | NA |
| Neo-openness to experience | 0.56 | 0.242 | 0.0207 | Wald ratio | 1 | cis | NA |
| Birth length | -0.0693 | 0.0303 | 0.022 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: muscle or soft tissue injuries | 0.166 | 0.0733 | 0.0231 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: pneumothorax | 0.475 | 0.237 | 0.0453 | Wald ratio | 1 | cis | NA |
| Packed cell volume | -0.133 | 0.0665 | 0.0455 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) | 0.613 | 0.308 | 0.0467 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] | 0.0947 | 0.0478 | 0.0476 | Wald ratio | 1 | cis | NA |
| Schizophrenia | -0.067 | 0.0339 | 0.0485 | Wald ratio | 1 | cis | NA |
| Weight | 0.0124 | 0.00643 | 0.0543 | Wald ratio | 1 | cis | NA |
| …and 89 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
33 association rows across 14 traits (30 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 |
|---|---|---|---|---|---|
| AMY1A or AMY1B or AMY1C protein levels | 4e-264 | rs113630435 | 5 | GCST90468297 | no MR -> candidate analysis |
| Alpha-amylase 1 levels | 9e-166 | rs78811372 | 5 | GCST90246401 | no MR -> candidate analysis |
| AMY2A protein levels | 2e-151 | rs150391908 | 5 | GCST90468298 | no MR -> candidate analysis |
| AMY2B protein levels | 7e-134 | rs150391908 | 4 | GCST90468299 | no MR -> candidate analysis |
| Alpha-amylase 2B levels | 2e-51 | rs79456674 | 3 | GCST90246402 | no MR -> candidate analysis |
| Blood protein levels | 3e-36 | rs17014913 | 1 | GCST006585 | no MR -> candidate analysis |
| Serum levels of protein AMY2B | 8e-36 | rs77729677 | 1 | GCST90086269 | no MR -> candidate analysis |
| Serum levels of protein AMY1A | 4e-32 | rs114922930 | 2 | GCST90089921 | no MR -> candidate analysis |
| CST5 protein levels | 2e-19 | rs113630435 | 1 | GCST90468895 | no MR -> candidate analysis |
| Circulating CST5 levels | 2e-15 | rs79456674 | 1 | GCST90859850 | no MR -> candidate analysis |
| Alpha-amylase 1 levels (AMY1A.7918.114.3) | 4e-15 | rs114922930 | 1 | GCST90240245 | no MR -> candidate analysis |
| Amylase levels | 2e-8 | rs60560048 | 1 | GCST90429173 | no MR -> candidate analysis |
| …and 2 more traits (see JSON) |
Top diseases by Open Targets association (of 83 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 |
|---|---|---|---|---|
| dentures | 0.182 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis | 0.081 | — | common-variant locus | MR: beta=-0.0906, p=0.254 (cis) |
| vertebral joint disorder | 0.078 | — | common-variant locus | no MR -> candidate analysis |
| intelligence | 0.065 | — | common-variant locus | no MR -> candidate analysis |
| Sensorineural hearing impairment | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| hearing loss disorder | 0.059 | — | common-variant locus | no MR -> candidate analysis |
| chronic atrophic gastritis | 0.055 | — | common-variant locus | no MR -> candidate analysis |
| polycythemia | 0.044 | — | common-variant locus | no MR -> candidate analysis |
| hyperaldosteronism | 0.042 | — | common-variant locus | no MR -> candidate analysis |
| lagophthalmos | 0.041 | — | common-variant locus | no MR -> candidate analysis |
| placenta praevia | 0.038 | — | common-variant locus | no MR -> candidate analysis |
| oropharynx cancer | 0.034 | — | common-variant locus | no MR -> candidate analysis |
| osteoarthritis, hip | 0.033 | — | common-variant locus | MR: beta=-0.0683, p=0.276 (cis) |
Of the 13 rows above, 11 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=4e-23, LOEUF=1.31 — LoF-tolerant |
| GWAS Catalog | 37 unique SNPs / 73 rows |
| ClinVar | 156 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 83 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 ‘AMY2B’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 156 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 14 of 14 traits by best p-value, aggregated from 33 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/P19961 — 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/ENSG00000240038/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/AMY2B — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/AMY2B — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=AMY2B%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/AMY2B — GWAS Catalog search API (live; release not exposed)