Fig. 4From: Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart diseaseDistribution of MPC and CADD scores of rare variants in 714 CHD cases and 4922 controls. Protein altering and truncating variants (PAV and PTV) with MAF < 0.001 identified in the genes ADCY2, ADCY5, CACNA1D, CACNA1H, CACNA1I, CACNA1S, GRIA4, ITPR1, NFAT5, and PLCB2 were scored using MPC score [22] (a) or CADD score [21] (b). NCHD = 136 variants. NControls = 982 variants. Difference between median values of controls and cases was determined using a Mann-Whitney rank-sum test. **p < 0.01, *p < 0.05Back to article page