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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 5 | 112839777 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.480 | 17 | 7674241 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.807 | 0.120 | 5 | 112828889 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.120 | 5 | 112828919 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 50331640 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 20364346 | stop gained | G/A;T | snv | 7.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 204549443 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 10 | 112950932 | missense variant | C/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 113146069 | missense variant | G/C;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 168139494 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 1 | 204526387 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |