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Table 1 Variants in the mitochondria associated with drDCM

From: “Omics” data integration and functional analyses link Enoyl-CoA hydratase, short chain 1 to drug refractory dilated cardiomyopathy

Gene_Chr: POS rs # AA Change log2 (fold change) p-value q-value MAF/ MinorAlleleCount Functional Consequence
ECHS1_chr10: 135186806 rs10466126 GTC  GCC 11 V/A V [Val]  A[Ala] 1.63329 0.00135 0.013927 A = 0.2448 (ExAC), A = 0.3241 (1000 Genomes), A = 0.3952 (GO-ESP) missense, upstream variant 2 KB
ECHS1: chr10: 135184126 rs1049951 ACC  ATC 75 T/I T [Thr]  I [Ile] 1.63329 0.00135 0.013927 G = 0.0869/10314 (ExAC), G = 0.1787/895 (1000 Genomes), G = 0.1987/2583 (GO-ESP) missense
DBT chr1:100672060 rs12021720 GGT  AGT 384G/S G [Gly]  S [Ser] 0.955072 0.00545 0.0368792 T = 0.0862/10470 (ExAC), T = 0.1082/542 (1000 Genomes), T = 0.1408/1831 (GO-ESP) missense
MCCC1 chr3:183037421 rs2270968 CAC  CCC 329H/P H [His]  P [Pro] 1.61882 0.0001 0.00205554 T = 0.3752/45346 (ExAC), G = 0.4649/2328 (1000 Genomes), T = 0.4152/5400 (GO-ESP) intron variant, missense, nc transcript variant
  1. Legend: ECHS1 enoyl-CoA hydratase, short chain, 1, mitochondrial, DBT Dihydrolipoamide branched chain transacylase E2, and MCCC1 methyl crotonoyl-CoA carboxylase 1. AA Amino acid. P-value probability value. Q-value p-value adjusted for the false discovery rate