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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.200 | 4 | 166008836 | intron variant | A/T | snv | 0.18 | 0.740 | 1.000 | 4 | 2017 | 2019 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.730 | 1.000 | 4 | 2008 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2008 | 2019 | ||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.720 | 1.000 | 2 | 2011 | 2011 | ||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2014 | 2016 | |||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2004 | 2016 | |||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 2 | 2012 | 2016 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.710 | 1.000 | 2 | 2008 | 2016 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||
|
15 | 0.732 | 0.320 | 17 | 7674237 | missense variant | G/A;C | snv | 0.710 | 0.500 | 2 | 2009 | 2016 | |||||
|
4 | 0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | < 0.001 | 1 | 2017 | 2017 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2016 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2004 | 2016 | ||||
|
1 | 1.000 | 0.080 | 5 | 1279417 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.080 | 16 | 71285743 | missense variant | G/A;C | snv | 0.94 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 38883969 | missense variant | T/G | snv | 8.3E-02 | 9.7E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 11 | 88232053 | regulatory region variant | C/T | snv | 0.70 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 20 | 12116249 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 13 | 67148073 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |