Table 5.
Ensemble Variant Effect Predictor (VEP) result
| Uploaded variation | Location | Allele | Consequence | Impact | Symbol | Gene | Feature type | Feature | Biotype | Exon | Intron | cDNA position | CDS position | Protein position | Amino acids | Codons | SIFT | PolyPhen | GMAF | Clinical significance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| rs2071942 | 6:12294760-12294760 | A | Intron_variant | MODIFIER | EDN1 | ENSG00000 78401 | Transcript | ENST00000 379375 | Protein_coding | - | 4 | - | - | - | - | - | - | - | A: 0.2558 | - |
| rs2071942 | 6:12294760-12294760 | A | Regulatory_region_variant | MODIFIER | - | - | Regulatory feature | ENSR00001 211220 | Promoter_flanking_region | - | - | - | - | - | - | - | - | - | A: 0.2558 | |
| rs1042714 | 5:148826910-148826910 | C | Missense_variant | MODERATE | ADRB2 | ENSG00000169252 | Transcript | ENST00000305988 | Protein_coding | 1 | - | 1666 | 79 | 27 | E/Q | GAA/CCA | tolerated (0.47) | benign (0.008) | G:0.2043 | risk_factor |
| rs1042714 | 5:148826910-148826910 | C | Regulatory_region_variant | MODIFIER | - | - | Regulatory feature | ENSR00001293358 | Promoter | - | - | - | - | - | - | - | - | - | G:0.2043 | risk_factor |