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: M23 Internal derangement of knee | 0.186 | 0.0672 | 0.00578 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.0255 | 0.00982 | 0.00948 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: R55 Syncope and collapse | 0.235 | 0.102 | 0.021 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level | 0.715 | 0.312 | 0.0219 | Wald ratio | 1 | cis | NA |
| Bipolar disorder | 0.241 | 0.113 | 0.0326 | Wald ratio | 1 | cis | NA |
| Creatinine (enzymatic) in urine | 0.0238 | 0.0115 | 0.0384 | Wald ratio | 1 | cis | NA |
| Potassium in urine | 0.0251 | 0.0122 | 0.0391 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.0205 | 0.0104 | 0.0474 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | -0.206 | 0.106 | 0.053 | Wald ratio | 1 | cis | NA |
| Age at menarche | -0.0536 | 0.0282 | 0.057 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | 0.0333 | 0.0177 | 0.0596 | Wald ratio | 1 | cis | NA |
| Heel bone mineral density (BMD) T-score automated | -0.0282 | 0.0155 | 0.0678 | Wald ratio | 1 | cis | NA |
| …and 77 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
16 association rows across 13 traits (8 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 |
|---|---|---|---|---|---|
| Serum levels of protein ASPH | 5e-24 | rs115581627 | 2 | GCST90089611 | no MR -> candidate analysis |
| Aspartyl/asparaginyl beta-hydroxylase levels (ASPH.6998.106. | 4e-17 | rs112760834 | 1 | GCST90240346 | no MR -> candidate analysis |
| Aspartyl/asparaginyl beta-hydroxylase level in Chronic kidne | 3e-13 | rs61731238 | 1 | GCST90238436 | no MR -> candidate analysis |
| Triglyceride levels x long total sleep time interaction (1df | 3e-13 | rs147261056 | 1 | GCST90837574 | no MR -> candidate analysis |
| Height | 1e-8 | rs7812327 | 1 | GCST90245848 | no MR -> candidate analysis |
| Dental caries | 1e-8 | rs185994551 | 1 | GCST90837178 | no MR -> candidate analysis |
| Resting heart rate | 2e-8 | rs142916219 | 1 | GCST004213 | no MR -> candidate analysis |
| Bone mineral density variability | 5e-8 | rs72657080 | 2 | GCST90321121 | no MR -> candidate analysis |
| Complement factor H-related protein 3 levels | 3e-7 | rs139396667 | 1 | GCST90026531 | no MR -> candidate analysis |
| BRCA1/2-negative high-risk breast cancer | 8e-7 | rs2350923 | 1 | GCST006719 | no MR -> candidate analysis |
| Breast area percent density | 1e-6 | rs181314234 | 2 | GCST90293092 | no MR -> candidate analysis |
| Intestinal gastric cancer in H. pylori positive individuals | 3e-6 | rs6471966 | 1 | GCST90432161 | no MR -> candidate analysis |
| …and 1 more traits (see JSON) |
Top diseases by Open Targets association (of 842 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 |
|---|---|---|---|---|
| facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | 0.829 | — | established (curated) | no MR -> candidate analysis |
| Abnormality of the skeletal system | 0.738 | — | common-variant locus | no MR -> candidate analysis |
| malignant hyperthermia of anesthesia | 0.684 | — | established (curated) | no MR -> candidate analysis |
| exercise-induced malignant hyperthermia | 0.684 | — | established (curated) | no MR -> candidate analysis |
| alcohol drinking | 0.625 | — | common-variant locus | no MR -> candidate analysis |
| COVID-19 | 0.579 | — | common-variant locus | no MR -> candidate analysis |
| inherited retinal dystrophy | 0.531 | — | common-variant locus | no MR -> candidate analysis |
| Sjogren syndrome | 0.51 | — | common-variant locus | no MR -> candidate analysis |
| injury | 0.505 | — | common-variant locus | MR: beta=0.715, p=0.0219 (cis) |
| upper extremity fracture | 0.485 | — | common-variant locus | no MR -> candidate analysis |
| Hypernatremia | 0.485 | — | common-variant locus | no MR -> candidate analysis |
| acidosis disorder | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| chronic laryngitis | 0.479 | — | common-variant locus | no MR -> candidate analysis |
| splenic disorder | 0.461 | — | common-variant locus | no MR -> candidate analysis |
| frozen shoulder | 0.419 | — | 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 (Aspartyl/asparaginyl beta-hydroxylase) |
| gnomAD constraint | pLI=9.5e-29, LOEUF=0.998 — LoF-tolerant |
| GWAS Catalog | 37 unique SNPs / 67 rows |
| ClinVar | 346 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | 1 clinical annotations across 1 drugs |
phenome — Top 30 of 842 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 ‘ASPH’ and resolved to ‘Aspartyl/asparaginyl beta-hydroxylase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 346 ClinVar records for this gene; it is a sample, not a rate.gwas_traits — Top 13 of 13 traits by best p-value, aggregated from 16 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/Q12797 — 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/ENSG00000198363/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL4680030/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/ASPH — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ASPH — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ASPH%5Bgene%5D — ClinVar build Build260809-1055.1pharmgkb: https://www.pharmgkb.org/search?query=ASPH — ClinPGx clinicalAnnotation via https://api.clinpgx.org/v1/datagwas_traits: https://www.ebi.ac.uk/gwas/genes/ASPH — GWAS Catalog search API (live; release not exposed)