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Table 1 Non-coding SNVs in the lung-specific enhancer region, identified in the newborn (P094) with 17q23.1q23.2 CNV deletion and lethal lung disease and absent in the control individuals with the same deletion but without lung abnormalities

From: A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

Position [hg19]rsaRefAltMAFbAlt allele count/ Allele numberPrevious appearance (number of individuals)c
chr17:59278456–59,278,456rs532804594TAAGA0.000824/313460
chr17:59345202–59,345,202rs117665209CT0.0167527/313260
chr17:59361129–59,361,129rs72277620A0.0142443/310420
chr17:59390028–59,390,028rs769013747CTGGTTTCCATGCC0.00039/314000
chr17:59408341–59,408,341rs3785850GA0.12193819/313782
chr17:59420152–59,420,152rs35383405GT0.11693/299381
chr17:59422277–59,422,277rs143541906TTAC0.09372862/302401
  1. Abbreviations are as follows: +, present; −, absent; Alt altered allele, MAF, minor allele frequency, NA not applicable, Ref reference allele, ars numbers based on dbSNP v.150; bMAF and allele number based on the GnomAD database (r2.0.2); cNumber of previously reported LLDD individuals with 17q23.1q23.2 CNV deletion and given non-coding variant