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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 | 0.050 | 1.000 | 5 | 2015 | 2020 | ||||
|
3 | 0.882 | 0.080 | 11 | 8256650 | intron variant | C/T | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
4 | 0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 | 0.040 | 1.000 | 4 | 2008 | 2017 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
7 | 0.827 | 0.200 | 11 | 8233861 | intron variant | C/A | snv | 0.24 | 0.030 | 1.000 | 3 | 2018 | 2020 | ||||
|
3 | 0.882 | 0.080 | 6 | 22125735 | intron variant | T/C;G | snv | 0.030 | 1.000 | 3 | 2016 | 2017 | |||||
|
5 | 0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2019 | |||||
|
3 | 0.882 | 0.080 | 6 | 22131700 | intron variant | C/A | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2017 | ||||
|
4 | 0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 3 | 158460535 | intron variant | G/A | snv | 0.51 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 11 | 102599525 | intron variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 11 | 43706780 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 8231502 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 15 | 74165683 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 104958399 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 214778776 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 11 | 8233559 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.240 | 1 | 113537449 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.120 | 15 | 92440492 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 |