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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.827 | 0.320 | 20 | 45894040 | missense variant | T/A | snv | 3.6E-05 | 4.9E-05 | 0.700 | 1.000 | 3 | 1996 | 2014 | |||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.160 | X | 63638143 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.160 | 5 | 151855144 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.160 | 7 | 99203201 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.240 | 10 | 87952170 | stop gained | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
15 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 1 | 109066220 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.240 | 1 | 109075001 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 166046970 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.790 | 0.400 | 12 | 49039277 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 124923996 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 |