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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.810 | 1.000 | 2 | 2018 | 2019 | |||
|
18 | 0.701 | 0.360 | 17 | 65558473 | missense variant | G/A | snv | 0.47 | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.400 | 3 | 189868624 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
4 | 0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.080 | 1 | 240493250 | missense variant | G/C | snv | 1.7E-03 | 1.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.240 | 8 | 38418249 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 14 | 36662975 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 |