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 |
|---|---|---|---|---|---|---|---|
| HDL cholesterol | -0.235 | 0.0278 | 3.10e-17 | Wald ratio | 1 | trans | 0.587 |
| Triglycerides | 0.183 | 0.0269 | 1.07e-11 | Wald ratio | 1 | trans | 0.667 |
| Mean cell volume | 0.592 | 0.149 | 6.93e-05 | Wald ratio | 1 | trans | NA |
| Heel bone mineral density (BMD) T-score automated | 0.067 | 0.0173 | 1.04e-04 | Wald ratio | 1 | trans | NA |
| Red blood cell count | -0.0443 | 0.0128 | 5.32e-04 | Wald ratio | 1 | trans | NA |
| Mean cell haemoglobin | 0.185 | 0.0589 | 0.00165 | Wald ratio | 1 | trans | NA |
| Thyroid cancer | -1.35 | 0.48 | 0.00486 | Wald ratio | 1 | trans | NA |
| PGC cross-disorder traits | -0.193 | 0.0689 | 0.00511 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: hypertension | 0.0564 | 0.0215 | 0.00872 | Wald ratio | 1 | trans | NA |
| Depressive symptoms | 0.0456 | 0.0182 | 0.0124 | Wald ratio | 1 | trans | NA |
| Forced vital capacity (FVC) | -0.0249 | 0.0109 | 0.0229 | Wald ratio | 1 | trans | NA |
| Hearing difficulty or problems: Yes | -0.0514 | 0.0243 | 0.0342 | Wald ratio | 1 | trans | NA |
| …and 112 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
68 association rows across 39 traits (65 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 |
|---|---|---|---|---|---|
| Testicular germ cell tumor | 3e-129 | rs3782181 | 6 | GCST004635 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 1e-75 | rs1508598 | 2 | GCST90838669 | no MR -> candidate analysis |
| Mean corpuscular volume | 6e-49 | rs10858740 | 6 | GCST90002338 | no MR -> candidate analysis |
| Mean spheric corpuscular volume | 1e-40 | rs10858740 | 1 | GCST90002397 | no MR -> candidate analysis |
| Mean corpuscular hemoglobin | 3e-39 | rs7487314 | 4 | GCST90002322 | no MR -> candidate analysis |
| Neutrophil count | 8e-35 | rs11104881 | 5 | GCST90002351 | no MR -> candidate analysis |
| White blood cell count | 2e-34 | rs11104881 | 6 | GCST90002374 | no MR -> candidate analysis |
| Testicular germ cell cancer | 2e-26 | rs3782181 | 1 | GCST000701 | no MR -> candidate analysis |
| Neutrophill count (UKB data field 30140) | 1e-25 | rs11104881 | 1 | GCST90468092 | no MR -> candidate analysis |
| Blond vs. brown/black hair color | 2e-24 | rs1907703 | 2 | GCST006988 | no MR -> candidate analysis |
| Testicular cancer | 6e-24 | rs1907702 | 2 | GCST90011805 | no MR -> candidate analysis |
| neutrophil (absolute count, minimum, inv-norm transformed) | 3e-23 | rs1907702 | 2 | GCST90475532 | no MR -> candidate analysis |
| …and 27 more traits (see JSON) |
Top diseases by Open Targets association (of 1559 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 |
|---|---|---|---|---|
| hyperpigmentation with or without hypopigmentation, familial progressive | 0.763 | — | established (curated) | no MR -> candidate analysis |
| Waardenburg syndrome, IIa 2F | 0.692 | — | established (curated) | no MR -> candidate analysis |
| autosomal dominant nonsyndromic hearing loss 69 | 0.6 | — | established (curated) | no MR -> candidate analysis |
| testicular cancer | 0.824 | — | common-variant locus | no MR -> candidate analysis |
| Non-syndromic genetic deafness | 0.608 | — | established (curated) | no MR -> candidate analysis |
| hair color | 0.79 | — | common-variant locus | no MR -> candidate analysis |
| familial progressive hyper- and hypopigmentation | 0.608 | — | established (curated) | no MR -> candidate analysis |
| actinic keratosis | 0.774 | — | common-variant locus | no MR -> candidate analysis |
| testicular germ cell tumor | 0.686 | — | common-variant locus | no MR -> candidate analysis |
| male reproductive organ cancer | 0.671 | — | common-variant locus | no MR -> candidate analysis |
| familial progressive hyperpigmentation | 0.608 | — | established (curated) | no MR -> candidate analysis |
| Waardenburg syndrome type 2 | 0.608 | — | established (curated) | no MR -> candidate analysis |
| testicular neoplasm | 0.616 | — | common-variant locus | no MR -> candidate analysis |
| autosomal dominant nonsyndromic hearing loss | 0.608 | — | established (curated) | no MR -> candidate analysis |
| skin aging | 0.6 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 15 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 (Kit ligand) |
| gnomAD constraint | not available |
| GWAS Catalog | 42 unique SNPs / 81 rows |
| ClinVar | 164 records; 1 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 1559 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 ‘KITLG’ and resolved to ‘Kit ligand’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 164 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 68 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/P21583 — 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/ENSG00000049130/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2346489/ — ChEMBL_37 (released 2026-05-01)gwas: https://www.ebi.ac.uk/gwas/genes/KITLG — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=KITLG%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/KITLG — GWAS Catalog search API (live; release not exposed)