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Table 2 Gene-based test association results (for genes with variants classified as damaging)

From: Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Gene NSNPs cMAF beta(se)T1-Burden PT1-Burden PSKAT Protein function Cardiac-specific involvement
ADAMTS6 12 0.0097 − 0.72 (0.23) 1.48 × 10−3 8.18 × 10−8 Zinc-dependent protease
CSRP3 3 0.0048 1.38 (0.31) 9.65 × 10−6 9.10 × 10−6 Regulator of myogenesis Myocyte cytoarchitecture maintenance
FHOD3 17 0.0171 0.00 (0.17) 9.86 × 10−1 1.82 × 10−5 Actin filament assembly Myofibril development and repair
ISM1 5 0.0037 1.47 (0.36) 5.05 × 10−5 5.88 × 10−5 Angiogenesis inhibitor
TBX5 8 0.0171 − 0.32 (0.17) 5.21 × 10−2 7.80 × 10−5 T-box transcription factor Cardiac development and cell cycle control
  1. Displayed are the top five genes that have the lowest P values in the SKAT test (for genes with damaging variants)
  2. Gene gene in which variants were collapsed, NSNPs number of variants used in the collapsed variant test, cMAF cumulative minor allele frequency of variants in the test, beta(se)T1burden effect size (standard error) in ms, PT1-Burden P value of T1-burden test, PSKAT P value of SKAT test, Protein function function of the protein encoded by respective gene, Cardiac-specific involvement, literature support for physiological involvement of the protein in the heart