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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.040 | 5 | 59383658 | intron variant | A/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 11 | 113436043 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.120 | 8 | 6414832 | missense variant | A/G | snv | 2.1E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | X | 123183391 | upstream gene variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | X | 123403426 | synonymous variant | T/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | X | 123239256 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 1 | 183277955 | intron variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 8 | 32756465 | missense variant | T/C | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.120 | 10 | 26216567 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.040 | 7 | 86774159 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 22 | 20241019 | downstream gene variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 170845970 | intron variant | C/T | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 170822115 | synonymous variant | T/C | snv | 0.39 | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 |