CausalSentinel

Protein Dossier — B2M (Beta-2-microglobulin)

MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).

1. Published MR estimates (retrieved, not computed)

Outcome beta se p method nSNP cis/trans coloc
Non-cancer illness code self-reported: hypothyroidism or myxoedema 0.983 0.0333 4.19e-191 Wald ratio 1 trans NA
Diastolic blood pressure automated reading 0.317 0.0205 5.54e-54 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hypertension 0.31 0.0251 5.15e-35 Wald ratio 1 trans NA
Platelet count 34.2 3.46 4.64e-23 Wald ratio 1 trans NA
Systolic blood pressure automated reading 0.178 0.0205 3.52e-18 Wald ratio 1 trans NA
Haemoglobin concentration 0.409 0.0475 7.05e-18 Wald ratio 1 trans NA
Total cholesterol -0.248 0.03 1.25e-16 Wald ratio 1 trans NA
Packed cell volume 1.1 0.15 1.75e-13 Wald ratio 1 trans NA
Non-cancer illness code self-reported: psoriasis 0.674 0.0972 4.08e-12 Wald ratio 1 trans NA
Red blood cell count 0.126 0.0183 6.71e-12 Wald ratio 1 trans NA
HDL cholesterol -0.196 0.0292 1.89e-11 Wald ratio 1 trans NA
LDL cholesterol -0.203 0.0308 4.26e-11 Wald ratio 1 trans NA
…and 124 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3485_28_2 b2-Microglobulin Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

No GWAS Catalog associations mapped to this gene.

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 1076 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
Immunodeficiency by defective expression of HLA class 1 0.778 established (curated) no MR -> candidate analysis
amyloidosis, hereditary systemic 6 0.715 established (curated) no MR -> candidate analysis
non-Hodgkin lymphoma 0.559 established (curated) no MR -> candidate analysis
Familial renal amyloidosis 0.734 established (curated) no MR -> candidate analysis
familial visceral amyloidosis 0.734 established (curated) no MR -> candidate analysis
variant ABeta2M amyloidosis 0.608 established (curated) no MR -> candidate analysis
Autosomal dominant beta2-microglobulinic amyloidosis 0.608 established (curated) no MR -> candidate analysis

Of the 7 rows above, 7 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.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability 0 known modulators (Beta-2-microglobulin)
gnomAD constraint pLI=0.95, LOEUF=0.534 — LoF-INTOLERANT
GWAS Catalog 19 unique SNPs / 42 rows
ClinVar 118 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance