
PMC . NCBI . NLM . NIH . GOV {
}
Title:
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease - PMC
Description:
Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) ...
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Keywords {🔍}
variants, doi, plof, biobank, disease, association, study, asthma, pubmed, coronary, scholar, pmc, google, risk, variant, article, artery, free, pdeb, supplementary, analysis, blood, ancestry, type, data, ifih, lower, consortium, estimates, pargter, lossoffunction, identified, height, gsdmb, genetic, individuals, exome, sex, splice, frequency, gpr, national, diabetes, adjusted, age, components, genes, table, pressure, heart,
Topics {✒️}
g-protein coupled receptor burrows–wheeler aligner algorithm genome-wide polygenic score research scholar award gene-based test combining grant r01 hl081153-01a1k org/topmed-banner-authorship genome-wide association studies pmc beta search inverse normalized prior nested case-control cohort locus-wide conditional analysis genome-wide association analysis mc4r-expressing glutamatergic neurons protein-coding genetic variants myocardial infarction genetics protein-coding genetic variation author contributions protein-coupled receptor body mass index body fat distribution myocardial infarction study 104-2314-b-075a-006-my3 primary plof analysis dbgap study accession brown fat characteristics central nervous system harvard medical school systolic blood pressure diastolic blood pressure results hightlight gpr151 eosinophil surface receptors plof variant-phenotype associations methods gene license information pmcid [doi] [pubmed] 5 white adipose tissue massachusetts general hospital conduct association analyses mesa share project genome-wide significance giant exome consortium10 allergic phenotypes—atopic dermatitis harvard catalyst funded smaller fat deposits23 essential splice site forced expiratory volume splice site variant brown adipose tissue21 ctsi grant ul1tr001881
Questions {❓}
- Outcome Gene pLOF variant Location EA RA AA change Freq (%) Beta SE P-value Novel?
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