Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.040 | 2 | 1403856 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 16 | 50634166 | 3 prime UTR variant | G/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 5 | 132475490 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 5 | 132391341 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 6 | 137682685 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 8 | 128518940 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.724 | 0.240 | 13 | 106410694 | intergenic variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 11 | 64350711 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
18 | 0.701 | 0.360 | 17 | 39883866 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.040 | 21 | 42431928 | intron variant | T/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.240 | 10 | 79287626 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.724 | 0.240 | 16 | 28329624 | intergenic variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | X | 136949968 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 19 | 49693735 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 12 | 103493699 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 9 | 120832525 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 17 | 42145640 | intron variant | C/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 2 | 162516642 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 3 | 12269274 | regulatory region variant | G/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 3 | 119395668 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.040 | 2 | 12504610 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 5 | 159304540 | intergenic variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 |