Table 2.
Nucleotide Substitution Effect | Impact | Number of SNPs |
---|---|---|
frameshift_variant | High | 4 |
stop_gained | High | 4 |
stop_lost | High | 1 |
synonymous_variant | Low | 338 |
splice_region_variant, synonymous_variant | Low | 5 |
synonymous_variant, NMD_transcript_variant | Low | 1 |
splice_region_variant, 3_prime_UTR_variant, NMD_transcript_variant | Low | 1 |
missense_variant | Moderate | 159 |
missense_variant, NMD_transcript_variant | Moderate | 4 |
missense_variant, splice_region_variant | Moderate | 4 |
intergenic_variant | Modifier | 243 |
3_prime_UTR_variant | Modifier | 533 |
intron_variant | Modifier | 751 |
downstream_gene_variant | Modifier | 1262 |
upstream_gene_variant | Modifier | 414 |
5_prime_UTR_variant | Modifier | 75 |
non_coding_transcript_exon_variant | Modifier | 49 |
intron_variant, non_coding_transcript_variant | Modifier | 38 |
intron_variant, NMD_transcript_variant | Modifier | 12 |
3_prime_UTR_variant, NMD_transcript_variant | Modifier | 5 |
NMD: nonsense-mediated messenger RNA (mRNA) decay, UTR: untranslated region.