CausalSentinel

Protein Dossier — SCIN (Scinderin)

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
Sodium in urine -0.0323 0.012 0.00696 Wald ratio 1 trans NA
Schizophrenia 0.143 0.0543 0.00841 Wald ratio 1 trans NA
Diagnoses - main ICD10: K80 Cholelithiasis -0.269 0.113 0.0167 Wald ratio 1 trans NA
Diagnoses - main ICD10: R11 Nausea and vomiting 0.333 0.142 0.0189 Wald ratio 1 trans NA
Non-cancer illness code self-reported: arthritis (nos) 0.214 0.115 0.0618 Wald ratio 1 trans NA
Hirschsprung’s disease -0.817 0.455 0.0727 Wald ratio 1 trans NA
Diagnoses - main ICD10: N20 Calculus of kidney and ureter 0.212 0.119 0.0744 Wald ratio 1 trans NA
Eczema 0.177 0.0998 0.0754 Wald ratio 1 trans NA
Systolic blood pressure automated reading 0.0219 0.0124 0.0789 Wald ratio 1 trans NA
Thalamus volume -65.5 37.3 0.0795 Wald ratio 1 trans NA
Diagnoses - main ICD10: R07 Pain in throat and chest -0.106 0.0605 0.081 Wald ratio 1 trans NA
Diagnoses - main ICD10: Z09 Follow-up examination after treatment for conditions other than malignant neoplasms -0.206 0.124 0.0957 Wald ratio 1 trans NA
…and 56 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

31 association rows across 21 traits (16 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
Height 4e-53 rs1990224 9 GCST90245848 no MR -> candidate analysis
Adseverin levels 1e-22 rs56357458 2 GCST90246446 no MR -> candidate analysis
Height (baseline) 6e-11 rs2079562 1 GCST90565843 no MR -> candidate analysis
Body size or adipose distribution (multivariate analysis) 2e-10 rs1990224 1 GCST90624105 no MR -> candidate analysis
Systolic blood pressure 1e-8 rs73053451 1 GCST90662908 MR: beta=0.0219, p=0.0789 (trans)
Gut microbiome abundance (class Clostridium sensu stricto sp 2e-8 rs55657832 1 GCST90569106 no MR -> candidate analysis
Physical function (baseline) 4e-8 rs2079562 1 GCST90565837 no MR -> candidate analysis
VCAM-1 levels in metastatic colorectal cancer 4e-7 rs6945041 2 GCST90651094 no MR -> candidate analysis
Adolescent idiopathic scoliosis 6e-7 rs17166189 1 GCST006287 no MR -> candidate analysis
TSP2 levels in metastatic colorectal cancer 9e-7 rs6945041 1 GCST90651093 no MR -> candidate analysis
Vitamin D deficiency 1e-6 rs557084736 1 GCST90667552 no MR -> candidate analysis
S-6-hydroxywarfarin levels 1e-6 rs116234739 1 GCST90129565 no MR -> candidate analysis
…and 9 more traits (see JSON)          

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

Top diseases by Open Targets association (of 135 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
colorectal carcinoma 0.422 common-variant locus no MR -> candidate analysis
sweat gland disorder 0.422 common-variant locus no MR -> candidate analysis
Alzheimer disease 0.235 common-variant locus no MR -> candidate analysis
endocrine gland neoplasm 0.121 common-variant locus no MR -> candidate analysis
pathological myopia 0.082 common-variant locus no MR -> candidate analysis
hair morphology 0.078 common-variant locus no MR -> candidate analysis
arthropathy 0.077 common-variant locus no MR -> candidate analysis
bone neoplasm 0.072 common-variant locus no MR -> candidate analysis
connective tissue neoplasm 0.072 common-variant locus no MR -> candidate analysis
Graves disease 0.067 common-variant locus no MR -> candidate analysis
alcohol drinking 0.062 common-variant locus no MR -> candidate analysis
protozoa infectious disease 0.055 common-variant locus no MR -> candidate analysis
seasonal allergic rhinitis 0.054 common-variant locus no MR -> candidate analysis
primary thrombocytopenia 0.054 common-variant locus no MR -> candidate analysis
diverticular disease 0.051 common-variant locus MR: beta=0.148, p=0.139 (trans)

Of the 15 rows above, 14 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=4.4e-31, LOEUF=1.18 — LoF-tolerant
GWAS Catalog 41 unique SNPs / 82 rows
ClinVar 210 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance