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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.070 | 1.000 | 7 | 2010 | 2014 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2019 | ||||
|
5 | 0.851 | 0.120 | 5 | 1394962 | intron variant | C/T | snv | 0.45 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
4 | 0.851 | 0.040 | 19 | 19948684 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.040 | 1 | 147552120 | intron variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 18 | 37565159 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 6 | 144698602 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 9 | 115094539 | intron variant | A/T | snv | 2.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 9 | 92811394 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 3 | 186353656 | intron variant | G/A | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 32645107 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 8 | 10307685 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 11 | 124742263 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 9 | 23347726 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 4 | 55514317 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 0.080 | 7 | 84008281 | intron variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 3 | 114997018 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.040 | 11 | 27672444 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 |