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 |
|---|---|---|---|---|---|---|---|
| Weight | -0.0316 | 0.00373 | 2.44e-17 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: basal cell carcinoma | 0.209 | 0.0358 | 4.87e-09 | Wald ratio | 1 | cis | NA |
| Cancer code self-reported: malignant melanoma | 0.202 | 0.0392 | 2.45e-07 | Wald ratio | 1 | cis | NA |
| Putamen volume | -42.6 | 11.6 | 2.45e-04 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.014 | 0.00422 | 8.94e-04 | Wald ratio | 1 | cis | NA |
| Pallidum volume | -11.3 | 3.72 | 0.00238 | Wald ratio | 1 | cis | NA |
| Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | 0.036 | 0.0122 | 0.00308 | Wald ratio | 1 | cis | NA |
| Sodium in urine | 0.0117 | 0.00416 | 0.00474 | Wald ratio | 1 | cis | NA |
| Hearing difficulty or problems: Yes | 0.0201 | 0.00715 | 0.00485 | Wald ratio | 1 | cis | NA |
| Amyotrophic lateral sclerosis | -0.084 | 0.0344 | 0.0146 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: N40 Hyperplasia of prostate | 0.095 | 0.04 | 0.0176 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | -0.008 | 0.00347 | 0.0209 | Wald ratio | 1 | cis | NA |
| …and 85 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
54 association rows across 51 traits (50 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 |
|---|---|---|---|---|---|
| AHCY/FADD protein level ratio | 4e-477 | rs78639799 | 1 | GCST90313209 | no MR -> candidate analysis |
| Agouti-signaling protein levels | 3e-428 | rs565102642 | 1 | GCST90246599 | no MR -> candidate analysis |
| AHCY/KYAT1 protein level ratio | 4e-401 | rs78639799 | 1 | GCST90313212 | no MR -> candidate analysis |
| AHCY/HSPA1A protein level ratio | 2e-395 | rs78639799 | 1 | GCST90313211 | no MR -> candidate analysis |
| AHCY/SNAP23 protein level ratio | 3e-345 | rs78639799 | 1 | GCST90313213 | no MR -> candidate analysis |
| AHCY/FABP5 protein level ratio | 2e-294 | rs78639799 | 1 | GCST90313208 | no MR -> candidate analysis |
| Agouti-signaling protein levels (ASIP.5676.54.3) | 1e-136 | rs565102642 | 1 | GCST90240218 | no MR -> candidate analysis |
| soluble Endothelial protein C receptor levels | 1e-62 | rs17332951 | 1 | GCST90424885 | no MR -> candidate analysis |
| PROCR protein levels | 1e-51 | rs117964690 | 1 | GCST90453400 | no MR -> candidate analysis |
| Cutaneous melanoma (MTAG) | 2e-38 | rs4911412 | 1 | GCST90103971 | no MR -> candidate analysis |
| Burning and freckling | 6e-37 | rs1015362; rs4911414 | 1 | GCST000196 | no MR -> candidate analysis |
| Freckles | 8e-29 | rs1015362; rs4911414 | 1 | GCST000197 | no MR -> candidate analysis |
| …and 39 more traits (see JSON) |
Top diseases by Open Targets association (of 695 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 |
|---|---|---|---|---|
| oculocutaneous albinism type 6 | 0.547 | — | established (curated) | no MR -> candidate analysis |
| hair color | 0.592 | — | common-variant locus | no MR -> candidate analysis |
| obesity and hypopigmentation | 0.547 | — | established (curated) | no MR -> candidate analysis |
| skin disorder | 0.483 | — | common-variant locus | no MR -> candidate analysis |
| phototoxic dermatitis | 0.425 | — | common-variant locus | no MR -> candidate analysis |
| systemic lupus erythematosus | 0.395 | — | common-variant locus | no MR -> candidate analysis |
| neoplasm | 0.36 | — | common-variant locus | MR: beta=0.0632, p=0.0414 (cis) |
| keloid | 0.381 | — | common-variant locus | no MR -> candidate analysis |
| skin neoplasm | 0.356 | — | common-variant locus | no MR -> candidate analysis |
| skin cancer | 0.345 | — | common-variant locus | no MR -> candidate analysis |
| melanoma | 0.321 | — | common-variant locus | MR: beta=0.202, p=2.45e-07 (cis) |
| cutaneous melanoma | 0.336 | — | common-variant locus | no MR -> candidate analysis |
| seborrheic dermatitis | 0.329 | — | common-variant locus | no MR -> candidate analysis |
| basal cell carcinoma | 0.32 | — | common-variant locus | MR: beta=0.209, p=4.87e-09 (cis) |
| pathological myopia | 0.265 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 12 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=7.4e-05, LOEUF=1.78 — LoF-tolerant |
| GWAS Catalog | 69 unique SNPs / 132 rows |
| ClinVar | 47 records; 7 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 695 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 ‘ASIP’.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 47 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 51 traits by best p-value, aggregated from 54 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/P42127 — 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/ENSG00000101440/associations — Open Targets data release 26.06gnomad: https://gnomad.broadinstitute.org/gene/ASIP — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/ASIP — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=ASIP%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/ASIP — GWAS Catalog search API (live; release not exposed)