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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
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Skeletal Muscle

ISSN: 2044-5040

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