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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: J Biomed Inform. 2017 Nov 29;77:50–61. doi: 10.1016/j.jbi.2017.11.016

Figure 6.

Figure 6

The location of SNPs within the DMD gene (ENSG00000198947) associated with autism subgroups divided into more and less severe categories. Note that the dysmorphic/nondysmorphic subgroup pair is based on the presence or absence of specific physical features rather than high/low severity of a phenotype; however, patients classified as dysmorphic tend to have higher severity in behavioral measures than nondysmorphic probands. Black bars represent DMD exons, obtained using Ensembl BioMart (GRCh38.p7). Note that DMD is transcribed from the reverse strand, from right to left in this figure. The top panel magnifies the chromosomal region ChrX:31550000–32070000 and the bottom panel magnifies ChrX:32925000–33090000. The asterisk (*) indicates two adjacent SNPs (79bp apart), both associated with the high-severity communication subgroup. Abbreviations: high=high-severity, low=low-severity, manner=mannerisms, comm=communication, cog=cognition.