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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | X | 48688403 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv | 0.820 | 1.000 | 2 | 2011 | 2012 | |||||
|
4 | 0.882 | 0.120 | 2 | 216201914 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 20 | 32434666 | missense variant | G/A | snv | 1.9E-02; 4.4E-06 | 7.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.850 | 1.000 | 7 | 2013 | 2019 | ||||
|
8 | 0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 | 0.710 | 1.000 | 2 | 2011 | 2015 | ||||
|
5 | 0.851 | 0.320 | 18 | 44951942 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.320 | 18 | 44951948 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
11 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 11 | 108270407 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 10 | 49459059 | missense variant | T/C | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.752 | 0.200 | 10 | 49470671 | missense variant | T/C | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 |