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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.730 | 1.000 | 4 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.080 | 6 | 32633026 | intron variant | T/C | snv | 0.49 | 0.720 | 1.000 | 4 | 2013 | 2017 | ||||
|
6 | 0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 | 0.720 | 1.000 | 3 | 2013 | 2017 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
4 | 0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 | 0.720 | 1.000 | 3 | 2013 | 2016 | ||||
|
17 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 0.710 | 1.000 | 2 | 2014 | 2017 | ||||
|
12 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 33143124 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 31512891 | upstream gene variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 47087167 | intron variant | T/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 91087644 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 85219363 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 179391655 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 32616804 | regulatory region variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 54380269 | intron variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 40927414 | downstream gene variant | A/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 227644742 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 |