Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 16 | 20799983 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.080 | 20 | 6622975 | intergenic variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 16 | 68778398 | intron variant | A/T | snv | 0.29 |
|
0.710 | 1.000 | 1 | 2019 | 2020 | ||||||||
|
0.776 | 0.080 | 16 | 80009361 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 |
|
0.850 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.730 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.790 | 0.080 | 17 | 42603793 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 10 | 102109138 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.120 | 3 | 151704793 | intergenic variant | G/A | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 2 | 198916862 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 17 | 72417112 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 3 | 53054269 | intron variant | T/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 19 | 41367096 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.080 | 10 | 8676041 | intergenic variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 2514418 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.080 | 20 | 54200178 | TF binding site variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 |
|
0.860 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.790 | 0.080 | 13 | 108630682 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.080 | 13 | 33464043 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 228244497 | missense variant | C/T | snv | 2.4E-05; 2.8E-05 | 5.6E-05 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.080 | 6 | 110429349 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 6 | 36655602 | regulatory region variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.080 | 9 | 94488752 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.120 | 6 | 32626471 | upstream gene variant | G/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |