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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 18896946 | missense variant | C/T | snv | 3.7E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 8 | 27828154 | start lost | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 17 | 76140095 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 9 | 69013990 | missense variant | C/T | snv | 4.8E-05 | 2.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | X | 47223642 | missense variant | G/A | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 18854890 | missense variant | T/A;C | snv | 8.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 17 | 45289251 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.320 | 11 | 108310222 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.320 | 9 | 132297011 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 19 | 4117551 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.200 | 9 | 134436505 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.160 | 2 | 15942195 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.160 | 12 | 132676599 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.160 | 3 | 14158639 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
6 | 0.827 | 0.160 | 18 | 51067035 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.280 | 19 | 4117553 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.280 | 11 | 66063413 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.280 | 18 | 51067036 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.200 | 3 | 37025648 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.851 | 0.240 | 10 | 87957919 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |