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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.900 | 0.873 | 63 | 2008 | 2019 | |||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 1.000 | 28 | 2010 | 2019 | ||||
|
14 | 0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 | 0.900 | 0.893 | 28 | 2011 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 86798310 | intron variant | G/A | snv | 8.9E-02 | 0.720 | 0.900 | 10 | 2014 | 2019 | ||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.880 | 1.000 | 10 | 2009 | 2018 | |||||
|
5 | 0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 | 0.850 | 0.889 | 9 | 2011 | 2017 | ||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.090 | 0.889 | 9 | 2004 | 2017 | ||||
|
3 | 1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 9 | 2014 | 2019 | ||||
|
4 | 1.000 | 0.040 | 8 | 142231572 | intron variant | A/C | snv | 0.68 | 0.810 | 1.000 | 8 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 11 | 124744061 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 8 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 231966518 | intron variant | G/A | snv | 0.49 | 0.080 | 0.875 | 8 | 2005 | 2018 | ||||
|
3 | 1.000 | 0.040 | 5 | 154301187 | intron variant | A/T | snv | 0.37 | 0.700 | 1.000 | 7 | 2014 | 2019 | ||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 30496516 | intron variant | A/G | snv | 0.19 | 0.710 | 1.000 | 7 | 2014 | 2019 | ||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.860 | 0.857 | 7 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 224526579 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.040 | 14 | 71950609 | intron variant | C/G | snv | 0.76 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
9 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 0.800 | 1.000 | 6 | 2013 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 110285440 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 117270390 | intron variant | G/A | snv | 0.64 | 0.060 | 1.000 | 6 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 123523928 | intron variant | G/C;T | snv | 0.700 | 1.000 | 6 | 2014 | 2019 | |||||
|
2 | 1.000 | 0.040 | 10 | 18456176 | intron variant | T/G | snv | 0.10 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
4 | 0.882 | 0.040 | 13 | 105487313 | intron variant | T/G | snv | 0.51 | 0.060 | 0.833 | 6 | 2006 | 2008 | ||||
|
3 | 1.000 | 0.040 | 18 | 55532886 | intron variant | A/G;T | snv | 0.700 | 1.000 | 6 | 2014 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 167933841 | intron variant | G/T | snv | 0.20 | 0.850 | 0.800 | 5 | 2011 | 2018 |