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Table 5 Gene-based rare variant association results for TMBIM1. TMBIM1 was the only genome-wide significant gene in the WES rare-variant association tests of METSIM and the whole dataset. Bolded results are significant at the appropriate threshold for the given test (see Methods).

From: Mitochondrial genome copy number measured by DNA sequencing in human blood is strongly associated with metabolic traits via cell-type composition differences

  FINRISK METSIM Joint analysis
Number Fraction with rare allele P Number Fraction with rare allele P Number Fraction with rare allele P
WES 9221 0.016 1.57 × 10-3 9813 0.013 1.44 × 10-6 19034 0.014 2.96 × 10-8
WGS 1084 0.028 0.489 3065 0.014 0.01 4149 0.013 0.01