rs11224340 - CNTN5 - RN7SL222P
Magnitude 2.2 · 1 study on file
Reported associations
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Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease - Unknown journal (n.d.) · Unknown authors · PubMed 36777996
ABSTRACT: Summary Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic loci across a range of human diseases and traits. However, most biobanks are primarily composed of individuals of European ancestry. We introduce the Global Biobank Meta-analysis Initiative (GBMI)-a collaborative network of 23 biobanks from 4 continents representing more than 2.2 million consented individuals with genetic data linked to electronic health records. GBMI meta-analyzes summary statistics from GWASs generated using harmonized genotypes and phenotypes from member biobanks for 14 exemplar diseases and endpoints. This strategy validates that GWASs conducted in diverse biobanks can be integrated despite heterogeneity in case definitions, recruitment strategies, and baseline ch
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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venous thromboembolism genetic risk Moderate
rs11224340 is associated with increased VTE risk through reduced ARHGAP42 expression in vascular tissues, impairing endothelial function
discuss with healthcare provider about personal VTE risk and evidence-based prevention strategies
Screening
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VTE symptoms Moderate
rs11224340 carriers have increased genetic predisposition to thrombosis; early detection of deep vein thrombosis or pulmonary embolism symptoms enables timely intervention
watch for leg swelling, calf pain, warmth, redness, or unexplained shortness of breath