Class | Definition | Variant description | Number of SNP |
---|---|---|---|
5′ Region | Upstream gene variant | Located within 5000 bases of the 5′ of an annotated gene | 7280 |
5’UTR | Located in the 5′ untranslated region of an annotated gene | ||
3′ Region | Downstream gene variant | Located within 5000 bases of the 3′ of an annotated gene | 4122 |
3’UTR | Located in the 3′ untranslated region of an annotated gene | ||
Non-synonymous | Missense | Changes one base resulting in a different amino acid sequence, but the length of the polypeptide is preserved. | 1144 |
Nonsense | Changes one base resulting in a premature stop codon, leading to a shortened polypeptide. | ||
Synonymous | Synonymous | Changes one base but resulting in the same amino acid. | 2090 |
ncRNA | ncRNA | Located in a non-coding RNA gene | 1556 |