Table 2.
Segregating variants for IMM
| 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 |
The bold entries are the prioritized region based on significance of haplotype association testing. The italic entries are genotyped in additional cohort