| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.740 | 0.400 | 5 | 1996 | 2016 | ||||||||
|
0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 |
|
0.730 | 0.750 | 4 | 2008 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 111795214 | intron variant | T/C | snv | 0.53 |
|
0.720 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.720 | 1.000 | 3 | 2015 | 2016 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.720 | 1.000 | 3 | 2013 | 2018 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.720 | 0.667 | 3 | 2016 | 2018 | |||||||||
|
0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 |
|
0.710 | 0.667 | 3 | 2015 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 113297684 | regulatory region variant | A/G | snv | 5.5E-02 |
|
0.710 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.120 | 16 | 72995261 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 0.080 | 14 | 84147550 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 6 | 11615072 | intergenic variant | G/A | snv | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 84732025 | intergenic variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 111835695 | downstream gene variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 44448340 | 3 prime UTR variant | A/G | snv | 8.7E-03 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 65253855 | regulatory region variant | T/G | snv | 2.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 21 | 35801864 | intron variant | G/A | snv | 6.2E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 1668524 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 5 | 122179500 | intron variant | A/G | snv | 0.18 | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 115113069 | regulatory region variant | C/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 86771849 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 16 | 87541726 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |