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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.926 | 27 | 2003 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.688 | 16 | 2005 | 2019 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.060 | 0.667 | 6 | 2014 | 2019 | |||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.040 | 0.750 | 4 | 2004 | 2019 | |||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
7 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||
|
7 | 0.807 | 0.040 | 1 | 2461209 | intron variant | G/C | snv | 0.64 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 7 | 100198492 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 19 | 43416460 | missense variant | G/T | snv | 8.3E-02 | 8.3E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 100198542 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
1 | 16 | 11281429 | intron variant | G/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||||
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
2 | 1.000 | 0.040 | 14 | 72683993 | intron variant | C/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
1 | 16 | 11276073 | intron variant | C/G;T | snv | 0.37 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 0.500 | 2 | 2017 | 2018 | |||
|
17 | 0.716 | 0.400 | 8 | 18400593 | missense variant | G/A | snv | 0.27 | 0.27 | 0.020 | 1.000 | 2 | 2014 | 2018 |