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Table 1 Summary of variants found at sites of increased evolutionary conservation

From: Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

Functional class Position (hg18) Variant type PhastCons PhyloP Frequency in ASD cases Frequency in NIMH control samples
3’UTR 5818136 SNV 1 2.19 1/144 0/1440
3’UTR 5820149-50 Indel 1 0.85/1.76 1/144 ND
Intron 70284973 SNV 1 1.99 1/144 1/1416
Intron 70285256 SNV 0.98 0.90 1/144 0/1441
Intron 70288838 SNV 0.69 1.03 1/144 2/1441
Intron 70291656 SNV 1 2.52 1/144 0/1440
3’UTR 70306922 SNV 0.73 −0.47 1/144 0/1440
  1. ASD, autism spectrum disorder; NIMH, National Institute of Mental Health; ND, Not Determined.