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 |
|---|---|---|---|---|---|---|---|
| Diagnoses - main ICD10: R04 Haemorrhage from respiratory passages | 0.368 | 0.13 | 0.00462 | Wald ratio | 1 | trans | NA |
| Primary sclerosing cholangitis | -0.432 | 0.161 | 0.00718 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: C50 Malignant neoplasm of breast | 0.213 | 0.0843 | 0.0115 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: enlarged prostate | 0.223 | 0.0914 | 0.0145 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: pernicious anaemia | 0.371 | 0.174 | 0.0332 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: vitiligo | 0.85 | 0.413 | 0.0396 | Wald ratio | 1 | trans | NA |
| Alcohol intake frequency | 0.04 | 0.0196 | 0.0411 | Wald ratio | 1 | trans | NA |
| Non-cancer illness code self-reported: osteoporosis | 0.182 | 0.0894 | 0.0422 | Wald ratio | 1 | trans | NA |
| Serum cystatin C (eGFRcys) | 0.0214 | 0.0107 | 0.0455 | Wald ratio | 1 | trans | NA |
| Subjective well being | -0.0321 | 0.0161 | 0.0455 | Wald ratio | 1 | trans | NA |
| Thalamus volume | 84.5 | 43.4 | 0.0513 | Wald ratio | 1 | trans | NA |
| Diagnoses - main ICD10: N20 Calculus of kidney and ureter | 0.231 | 0.128 | 0.0705 | Wald ratio | 1 | trans | NA |
| …and 78 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
55 association rows across 35 traits (51 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 |
|---|---|---|---|---|---|
| Bone mineral density mean | 1e-300 | rs184778371 | 3 | GCST90321120 | no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) | 7e-48 | rs7932404 | 2 | GCST90838669 | no MR -> candidate analysis |
| Mean platelet volume | 9e-43 | rs11030122 | 4 | GCST90002346 | no MR -> candidate analysis |
| Mean platelet thrombocyte volume (UKB data field 30100) | 1e-40 | rs4414209 | 1 | GCST90468087 | no MR -> candidate analysis |
| mean platelet volume (MPV, mean, inv-norm transformed) | 5e-29 | rs113746149 | 2 | GCST90475520 | no MR -> candidate analysis |
| mean platelet volume (MPV, maximum, inv-norm transformed) | 1e-27 | rs113746149 | 2 | GCST90475517 | no MR -> candidate analysis |
| Stromal interaction molecule 1 levels | 6e-20 | rs11030122 | 1 | GCST90249678 | no MR -> candidate analysis |
| Atrial fibrillation | 3e-19 | rs7126252 | 4 | GCST90624411 | MR: beta=-0.138, p=0.35 (trans) |
| Platelet distribution width (UKB data field 30110) | 4e-19 | rs11030122 | 1 | GCST90468097 | no MR -> candidate analysis |
| Mitochondrial DNA copy number | 6e-16 | rs139115730 | 1 | GCST90026371 | no MR -> candidate analysis |
| GLIPR1 protein levels | 4e-14 | rs189094988 | 1 | GCST90469357 | no MR -> candidate analysis |
| Platelet distribution width | 5e-14 | rs11030122 | 2 | GCST90002401 | no MR -> candidate analysis |
| …and 23 more traits (see JSON) |
Top diseases by Open Targets association (of 2594 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 |
|---|---|---|---|---|
| myopathy, tubular aggregate, 1 | 0.921 | — | established (curated) | no MR -> candidate analysis |
| combined immunodeficiency due to STIM1 deficiency | 0.827 | — | established (curated) | no MR -> candidate analysis |
| Stormorken syndrome | 0.876 | — | established (curated) | no MR -> candidate analysis |
| tubular aggregate myopathy | 0.843 | — | established (curated) | no MR -> candidate analysis |
| Stormorken-Sjaastad-Langslet syndrome | 0.608 | — | established (curated) | no MR -> candidate analysis |
| combined immunodeficiency due to CRAC channel dysfunction | 0.608 | — | established (curated) | no MR -> candidate analysis |
| atrial fibrillation | 0.674 | — | common-variant locus | MR: beta=-0.138, p=0.35 (trans) |
| familial hemolytic anemia | 0.598 | — | common-variant locus | no MR -> candidate analysis |
| inherited hemoglobinopathy | 0.593 | — | common-variant locus | no MR -> candidate analysis |
| atrial flutter | 0.485 | — | common-variant locus | MR: beta=-0.138, p=0.35 (trans) |
| myopathy, autophagic vacuolar, infantile-onset | 0.438 | — | established (curated) | no MR -> candidate analysis |
| non-autoimmune hemolytic anemia | 0.43 | — | common-variant locus | no MR -> candidate analysis |
| sickle cell disease and related diseases | 0.43 | — | common-variant locus | no MR -> candidate analysis |
| alcohol drinking | 0.427 | — | common-variant locus | no MR -> candidate analysis |
| urolithiasis | 0.414 | — | common-variant locus | no MR -> candidate analysis |
Of the 15 rows above, 13 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 (ORAI1/STIM1) |
| gnomAD constraint | pLI=1, LOEUF=0.467 — LoF-INTOLERANT |
| GWAS Catalog | 73 unique SNPs / 146 rows |
| ClinVar | 955 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 2594 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 ‘STIM1’ and resolved to ‘ORAI1/STIM1’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 955 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 35 traits by best p-value, aggregated from 55 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/Q13586 — 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/ENSG00000167323/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL3832644/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/STIM1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/STIM1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=STIM1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/STIM1 — GWAS Catalog search API (live; release not exposed)