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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.080 | X | 106901299 | intron variant | T/C | snv | 0.41 | 0.710 | 1.000 | 2 | 2012 | 2020 | ||||
|
3 | 0.882 | 0.080 | X | 106917472 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | X | 106940440 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 142765617 | intron variant | G/A | snv | 0.51 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | X | 106897095 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | X | 106919404 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 20 | 51837908 | intron variant | C/T | snv | 2.7E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | X | 106250703 | intergenic variant | G/A | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 2035283 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 95555669 | intergenic variant | A/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 10 | 30230903 | regulatory region variant | C/T | snv | 0.64 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 7 | 130269008 | stop gained | C/T | snv | 8.8E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.790 | 0.160 | 7 | 142773993 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.100 | 0.889 | 18 | 2001 | 2020 | |||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 | 0.100 | 0.800 | 10 | 2000 | 2020 | ||||
|
11 | 0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv | 0.100 | 0.800 | 10 | 2000 | 2020 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.060 | 1.000 | 6 | 2001 | 2011 | ||||
|
3 | 0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2000 | 2020 | |||||
|
8 | 0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 | 0.040 | 1.000 | 4 | 1997 | 1999 | ||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.040 | 1.000 | 4 | 2000 | 2010 | ||||
|
10 | 0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2002 | 2020 | |||
|
11 | 0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv | 0.030 | 1.000 | 3 | 1999 | 2011 | |||||
|
10 | 0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2014 | ||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.020 | 1.000 | 2 | 2006 | 2006 |