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Three rSNPs (rs3125289, rs1877474 and rs11119982) in one intron of the activating transcription factor 3 (ATF3) gene have been significantly associated with the human etiology of hypospadias and may be associated with human disease. These rSNP alleles alter the DNA landscape for potential transcriptional factors (TFs) to attach resulting in changes in transcriptional factor binding sites (TFBS). These TFBS changes are examined with respect to the human etiology of hypospadias which has been found to be significantly associated with the rSNPs.

ATF3 rSNPs, transcriptional factor binding sites and human etiology