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 | -0.121 | 0.0209 | 6.84e-09 | Wald ratio | 1 | cis | NA |
| Total cholesterol | -0.117 | 0.0214 | 4.38e-08 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.084 | 0.0225 | 1.85e-04 | Wald ratio | 1 | cis | NA |
| Body mass index (BMI) | -0.0492 | 0.0146 | 7.84e-04 | Wald ratio | 1 | cis | NA |
| Transferrin | -0.207 | 0.062 | 8.23e-04 | Wald ratio | 1 | cis | NA |
| Eye problems or disorders: Cataract | 0.209 | 0.0655 | 0.00144 | Wald ratio | 1 | cis | NA |
| Fractured bone site(s): Wrist | 0.231 | 0.0837 | 0.00576 | Wald ratio | 1 | cis | NA |
| Multiple sclerosis | -0.261 | 0.0987 | 0.0082 | Wald ratio | 1 | cis | NA |
| Forced vital capacity (FVC) | 0.0311 | 0.012 | 0.0098 | Wald ratio | 1 | cis | NA |
| Forced expiratory volume in 1-second (FEV1) | 0.031 | 0.0127 | 0.0144 | Wald ratio | 1 | cis | NA |
| Weight | -0.0295 | 0.0129 | 0.0224 | Wald ratio | 1 | cis | NA |
| Body fat | -0.0615 | 0.0283 | 0.03 | Wald ratio | 1 | cis | NA |
| …and 107 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
343 association rows across 203 traits (327 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 |
|---|---|---|---|---|---|
| Monocyte count | 6e-120 | rs1945392 | 6 | GCST90002344 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 7e-107 | rs7121365 | 2 | GCST90838669 | no MR -> candidate analysis |
| Monocyte count (UKB data field 30130) | 5e-82 | rs7121365 | 1 | GCST90468090 | no MR -> candidate analysis |
| CRTAM protein levels | 6e-81 | rs186063948 | 7 | GCST90468871 | no MR -> candidate analysis |
| High density lipoprotein cholesterol levels | 1e-66 | rs10892870 | 16 | GCST90239649 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, mean, inv-norm t | 5e-65 | rs6589939 | 2 | GCST90475352 | no MR -> candidate analysis |
| Lymphocyte count | 1e-63 | rs11218725 | 6 | GCST90002316 | no MR -> candidate analysis |
| high density lipoprotein cholesterol (HDLC, maximum, inv-nor | 2e-62 | rs6589939 | 2 | GCST90475348 | no MR -> candidate analysis |
| Total cholesterol levels | 3e-60 | rs7930518 | 9 | GCST90239673 | no MR -> candidate analysis |
| monocyte (absolute count, mean, inv-norm transformed) | 1e-54 | rs11602323 | 3 | GCST90479702 | no MR -> candidate analysis |
| Lymphocyte count (UKB data field 30120) | 2e-54 | rs58432776 | 1 | GCST90468082 | no MR -> candidate analysis |
| High-density lipoprotein levels | 5e-52 | rs58473820 | 1 | GCST90662894 | no MR -> candidate analysis |
| …and 191 more traits (see JSON) |
Top diseases by Open Targets association (of 128 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 |
|---|---|---|---|---|
| hypertensive disorder | 0.775 | — | common-variant locus | no MR -> candidate analysis |
| essential hypertension | 0.729 | — | common-variant locus | no MR -> candidate analysis |
| Hypercholesterolemia | 0.689 | — | common-variant locus | MR: beta=-0.121, p=6.84e-09 (cis) |
| coronary atherosclerosis | 0.61 | — | common-variant locus | no MR -> candidate analysis |
| coronary artery disorder | 0.608 | — | common-variant locus | no MR -> candidate analysis |
| drug allergy | 0.525 | — | common-variant locus | no MR -> candidate analysis |
| hypothyroidism | 0.524 | — | common-variant locus | MR: beta=0.0819, p=0.174 (cis) |
| placenta praevia | 0.509 | — | common-variant locus | no MR -> candidate analysis |
| heart disorder | 0.501 | — | common-variant locus | no MR -> candidate analysis |
| obesity disorder | 0.483 | — | common-variant locus | no MR -> candidate analysis |
| deficiency anemia | 0.484 | — | common-variant locus | no MR -> candidate analysis |
| multiple sclerosis | 0.482 | — | common-variant locus | MR: beta=-0.261, p=0.0082 (cis) |
| self-injurious ideation | 0.481 | — | common-variant locus | no MR -> candidate analysis |
| cardiovascular disorder | 0.47 | — | common-variant locus | no MR -> candidate analysis |
| response to statin | 0.457 | — | 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 | 0 known modulators (Ubiquitin-associated and SH3 domain-containing protein B) |
| gnomAD constraint | pLI=0.012, LOEUF=0.584 — LoF-tolerant |
| GWAS Catalog | 136 unique SNPs / 338 rows |
| ClinVar | 145 records; 3 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 128 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 ‘UBASH3B’ and resolved to ‘Ubiquitin-associated and SH3 domain-containing protein B’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 145 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 203 traits by best p-value, aggregated from 343 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/Q8TF42 — 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/ENSG00000154127/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL5725045/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/UBASH3B — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/UBASH3B — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=UBASH3B%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/UBASH3B — GWAS Catalog search API (live; release not exposed)