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Table 2 PPHN-Associated missense variants identified in the han population

From: Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

ChrPosRefAltVariantsGenePPHN (MAF)Ctrl (MAF)P valueORMAFa
chr1248,866,585ACp.L46FANP32D0.6040.6870.04870.690.187
chr1248,888,594CTp.P86SC12orf540.1880.120.02651.700.372
chr193,826,178ATp.E171DDR10.0520.0160.01213.310.092
chr1545,409,732CGp.R433PDUOXA10.0710.0330.03652.280.083
chr1689,857,935GAp.A412VFANCA0.1560.290.00050.450.065
chr1689,805,914TCp.T1328AFANCA0.1560.2740.00170.490.031
chr1689,839,766GCp.P643AFANCA0.1820.2970.00320.530.025
chr1689,836,323CTp.G809DFANCA0.9680.990.04430.300.467
chr1631,341,863GCp.E477DITGAM0.0260.0050.0275.290.001
chr1054,531,235CTp.G54DMBL20.130.2090.02620.570.139
chr2207,603,221TCp.T515AMDH1B0.0520.0210.04752.520.087
chr1248,501,161ATp.H2LPFKM0.5320.6210.04730.700.266
chr1075,673,101TCp.L105PPLAU0.5580.6820.00380.590.755
chr3157,155,314CAp.A48DPTX30.8570.7750.02341.740.625
chr1232,539,219CTp.G695SSIPA1L20.4420.5440.02180.660.065
chr1212,587,320TCp.N47DTMEM2060.1620.0880.00762.020.035
chr39,876,568CTp.P777STTLL30.0260.0050.0275.290.001
chr39,860,595GAp.E317KTTLL30.0060.0380.04630.170.001
  1. aMinor allele frequency (MAF) according to the Exome Aggregation Consortium database. Definition of abbreviations: Alt Alteration, Chr Chromosome, Ctrl Control, Pos Position, OR Odds ratio, PPHN Persistent pulmonary hypertension of the newborn, Ref Reference