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Table 2 Comparison of genotype and allele frequencies of EHMT1 and EHMT2 missense variants between autism spectrum disorder (ASD) cases and controls

From: Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects

Gene Variant Subject Genotype P-value Allele P-value MAFa(%)
EHMT1 c.2903A > G   A/A A/G G/G   A G   G
Lys968Arg Autism 292 1 0 0.14 585 1 0.46 0.170
(ANK repeat domain) Control 1,139 0 0   2,278 0   0
EHMT2 c.2882C > T   C/C C/T T/T   C T   T
Thr961Ile Autism 292 1 0 0.14 585 1 0.46 0.170
  (SET domain) Control 1,139 0 0   2,278 0   0
  1. aMAF: minor allele frequency. ANK, ankyrin repeat domain; SET, Su(var)3-9-Enhancer of zeste-Trithorax domain.
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Molecular Autism

ISSN: 2040-2392