Skip to main content

Table 2 Segregating variants for IMM

From: A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses

Variant Ref allele Alternate allele SNPEff Skeletal muscle expression [35] Conservation score
chr11:50,342,189 G A Upstream, ACAP1 Non-coding 0.149
chr11:50,534,985 A AG Intergenic Coding 0
chr11:51,060,046 G A Upstream, TMEM107 Non-coding N/A
chr11:51,248,313 T C Synonymous, KRBA2 Coding 0
chr11:51,282,298 C T Intergenic Non-coding 0
chr11:51,514,034 C T Intergenic Non-coding 0.022
chr11:51,515,343 C T Intergenic Non-coding 1
chr11:51,516,129 C G Intergenic Non-coding 0.006
chr11:51,543,197 T C Intergenic Non-coding 0
chr11:52,944,928 G C Intergenic Non-coding N/A
chr11:52,993,878 T C Missense, MYH1 Coding 1
chr11:53,105,764 C T Missense, MYH3 Non-coding 1
chr11:53,502,949 G GT Intergenic Non-coding 0
chr11:53,795,669 G A Intronic, novel gene (ENSECAG00000025157) Non-coding N/A
chr11:53,830,181 C T Intronic, novel gene (ENSECAG00000025157) Non-coding N/A
  1. The bold entries are the prioritized region based on significance of haplotype association testing. The italic entries are genotyped in additional cohort