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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