g:SNPense maps a list of human SNP rs-codes (e.g. rs7961894) to gene names, receives chromosomal coordinates and predicted variant effects. Mapping is enabled only for variants that overlap with at least one protein coding Ensembl gene. All underlying data are retrieved from the Ensembl Variation data.
The variant effects are described with colour-coded set of variant consequences terms, defined by the Sequence Ontology and ordered by severity.
| transcript_ablation | incomplete_terminal_codon_variant | TFBS_ablation | |||
| splice_acceptor_variant | stop_retained_variant | TFBS_amplification | |||
| splice_donor_variant | synonymous_variant | TF_binding_site_variant | |||
| stop_gained | coding_sequence_variant | regulatory_region_ablation | |||
| frameshift_variant | mature_miRNA_variant | regulatory_region_amplification | |||
| stop_lost | 5_prime_UTR_variant | feature_elongation | |||
| start_lost | 3_prime_UTR_variant | regulatory_region_variant | |||
| transcript_amplification | non_coding_transcript_exon_variant | feature_truncation | |||
| inframe_insertion | intron_variant | intergenic_variant | |||
| inframe_deletion | NMD_transcript_variant | splice_donor_5th_base_variant | |||
| missense_variant | non_coding_transcript_variant | splice_donor_region_variant | |||
| protein_altering_variant | upstream_gene_variant | splice_polypyrimidine_tract_variant | |||
| splice_region_variant | downstream_gene_variant |
Only those effects are shown which correspond to given rs-codes. Displayed number shows the number of variant effects.