VARIANTS
Users can search for variant data occurring on our collected genes. For each variant, we retrieved its basic annotation (gene, transcript, protein position, wildtype and mutant amino acid, codons), its association study statistics (sourced from Genebass ) and corresponding variant effect prediction scores (sourced from Ensembl ) from over 41 algorithms, including SIFT, Polyphen, PrimateAI, and AlphaMissense, normalized to facilitate comparisons.
As an example, the image on the right shows violin plots summarizing effect prediction scores of 10 variants with means of these scores >= 0.7 in gene TNFSF11
Enter a genename, gene Ensembl ID or variant in Ensembl format
Random variant examples
| Variant ID | Gene ID | Gene symbol | Primary transcript | Details |
|---|---|---|---|---|
| 1_225839224_C/T | ENSG00000143819 | EPHX1 | ENST00000272167 | See variant effect scores and associations |
| 3_50375843_T/C | ENSG00000007402 | CACNA2D2 | ENST00000424201 | See variant effect scores and associations |
| 12_122226000_C/T | ENSG00000184047 | DIABLO | ENST00000464942 | See variant effect scores and associations |
| 5_69262220_C/T | ENSG00000134058 | CDK7 | ENST00000256443 | See variant effect scores and associations |
| 11_62616544_G/T | ENSG00000149541 | B3GAT3 | ENST00000265471 | See variant effect scores and associations |
| 12_46204328_C/T | ENSG00000111371 | SLC38A1 | ENST00000398637 | See variant effect scores and associations |
| 12_2585488_G/A | ENSG00000151067 | CACNA1C | ENST00000399655 | See variant effect scores and associations |
| 3_195884928_-/GGGGCCCCTCCCCTGCT | ENSG00000061938 | TNK2 | ENST00000672887 | See variant effect scores and associations |
| 11_68032926_A/G | ENSG00000110717 | NDUFS8 | ENST00000313468 | See variant effect scores and associations |
| 12_24878614_T/C | ENSG00000060982 | BCAT1 | ENST00000261192 | See variant effect scores and associations |
| 11_105034294_G/T | ENSG00000137752 | CASP1 | ENST00000533400 | See variant effect scores and associations |
| 20_4248533_T/C | ENSG00000171873 | ADRA1D | ENST00000379453 | See variant effect scores and associations |
| 12_57237038_T/G | ENSG00000185633 | NDUFA4L2 | ENST00000554503 | See variant effect scores and associations |
| 1_169729357_C/T | ENSG00000007908 | SELE | ENST00000333360 | See variant effect scores and associations |
| 19_1979017_G/A | ENSG00000133275 | CSNK1G2 | ENST00000255641 | See variant effect scores and associations |
| 12_2679470_C/T | ENSG00000151067 | CACNA1C | ENST00000399655 | See variant effect scores and associations |
| 15_41494382_A/C | ENSG00000137825 | ITPKA | ENST00000260386 | See variant effect scores and associations |
| 3_49902835_C/T | ENSG00000164078 | MST1R | ENST00000296474 | See variant effect scores and associations |
| 11_72136035_G/A | ENSG00000110203 | FOLR3 | ENST00000611028 | See variant effect scores and associations |
| 17_81693671_C/T | ENSG00000185359 | HGS | ENST00000329138 | See variant effect scores and associations |