Table 3 Summary of variant-impact and type of variant in genes associated with coat color phenotype
Variant | ASIP | DCT | KIT | MC1R | PMEL1 | PMEL2 | TYR | TYRP1 |
|---|---|---|---|---|---|---|---|---|
Impact | ||||||||
HIGH impact | 0 | 0 | 1 | 2 | 0 | 0 | 0 | 0 |
MODERATE impact | 0 | 6 | 3 | 1 | 4 | 4 | 2 | 3 |
LOW impact | 1 | 10 | 7 | 0 | 1 | 0 | 3 | 4 |
MODIFIER | 18 | 538 | 550 | 2 | 22 | 23 | 775 | 59 |
Type | ||||||||
3_prime_UTR_variant | 1 | 6 | 10 | 2 | 1 | 0 | 2 | 4 |
5_prime_UTR_variant | 0 | 4 | 1 | 0 | 0 | 0 | 0 | 0 |
disruptive_inframe_deletion | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 |
downstream_gene_variant | 0 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
frameshift_variant | 0 | 0 | 0 | 2 | 0 | 0 | 0 | 0 |
intron_variant | 17 | 530 | 541 | 0 | 21 | 18 | 773 | 55 |
missense_variant | 0 | 6 | 3 | 1 | 3 | 3 | 2 | 3 |
splice_acceptor_variant | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
splice_region_variant | 0 | 3 | 2 | 0 | 0 | 0 | 0 | 0 |
synonymous_variant | 1 | 8 | 6 | 0 | 1 | 0 | 3 | 4 |
upstream_gene_variant | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 0 |