Table 2.
miRNA candidate variants.
| miRNA | Region | Target Genes | chr | pos | rsID | Ref | Alt | AF_2_exome | AF_2_genome | AF_3 | Family | Inheritance | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| hsa-miR-6780a-3p | seed | 179 | chr17 | 40860121 | rs200279579 | A | G | 1.23 × 10−4 | 9.42 × 10−5 | 1.26 × 10−4 | FAM5 | dominant | RI |
| hsa-miR-1225-5p | mature | 43 | chr16 | 2140269 | rs371749301 | C | A | 1.48 × 10−5 | 4.72 × 10−5 | 2.00 × 10−4 | FAM58 | dominant | RI |
| hsa-miR-2277-3p | mature | 37 | chr5 | 92956416 | rs550720421 | G | T | 4.62 × 10−4 | 4.24 × 10−4 | 8.83 × 10−4 | FAM58 | dominant | RI |
| hsa-miR-548j-5p | mature | 42 | chr22 | 26951249 | rs565141718 | C | T | 3.95 × 10−4 | 4.70 × 10−5 | 1.41 × 10−4 | FAM13 | dominant | LI |
| hsa-miR-100-5p | mature | 26 | chr11 | 122022992 | rs761222509 | G | A | 1.93 × 10−5 | N/A | 7.42 × 10−6 | FAM66 | dominant | RI |
miRNA: HGNC Symbol. Region: miRNA region. Target Genes: the number of miRNA target genes predicted by TargetScanHuman. chr: Chromosome. pos: Variant position. rsID: DBSNP150 reference SNV number. Ref: Reference allele. Alt: Alternate Allele. AF_2_exome: Population AF from gnomAD v2 non-neuro exome database. AF_2_genome: Population AF from gnomAD v2 non-neuro genome database. AF_3: Population AF from gnomAD v3_non_neuro database. Family: Affected Family ID. Inheritance: Inheritance mode for the affected family. Phenotype: Phenotype of the affected individual.