CausalSentinel

Protein Dossier — CHIC2 (Cysteine-rich hydrophobic domain-containing protein 2)

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
Creatinine (enzymatic) in urine -0.0295 0.0108 0.00648 Wald ratio 1 trans NA
Mean cell haemoglobin concentration 0.0427 0.0161 0.008 Wald ratio 1 trans NA
IgA nephropathy 1.05 0.396 0.0082 Wald ratio 1 trans NA
Serum cystatin C (eGFRcys) 0.0224 0.00874 0.0105 Wald ratio 1 trans NA
Serum creatinine (eGFRcrea) 0.00979 0.00385 0.0109 Wald ratio 1 trans NA
Urinary albumin-to-creatinine ratio 0.0699 0.028 0.0124 Wald ratio 1 trans NA
Triglycerides -0.0517 0.021 0.0136 Wald ratio 1 trans NA
Non-cancer illness code self-reported: anxiety or panic attacks -0.341 0.141 0.0153 Wald ratio 1 trans NA
Fasting glucose -0.0318 0.014 0.0229 Wald ratio 1 trans NA
Femoral neck bone mineral density -0.0737 0.0348 0.0343 Wald ratio 1 trans NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain -0.132 0.0627 0.0356 Wald ratio 1 trans NA
Non-cancer illness code self-reported: osteoarthritis -0.0859 0.0414 0.0378 Wald ratio 1 trans NA
…and 113 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

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

10 association rows across 7 traits (6 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
Red blood cell erythrocyte count (UKB data field 30010) 3e-12 rs370728588 1 GCST90468098 no MR -> candidate analysis
Corpus callosum posterior volume 8e-9 rs751410660 1 GCST90281348 no MR -> candidate analysis
Corpus callosum posterior subregion volume 1e-8 rs7674765 2 GCST90728575 no MR -> candidate analysis
Odor identification (fish) 4e-8 rs73252922 1 GCST90628027 no MR -> candidate analysis
Total corpus callosum volume 4e-8 rs10033247 1 GCST90728576 no MR -> candidate analysis
Post bronchodilator FEV1/FVC ratio 1e-6 rs192046469 3 GCST003264 no MR -> candidate analysis
Pregnancy loss in nulliparas 2e-6 rs60907021 1 GCST90429686 no MR -> candidate analysis

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

No genetically-associated diseases retrieved from Open Targets.

5. Downstream annotation (druggability & safety preview)

Layer Result
ChEMBL druggability not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=0.007, LOEUF=0.847 — LoF-tolerant
GWAS Catalog 51 unique SNPs / 94 rows
ClinVar 39 records; 8 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance