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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.790 | 0.280 | 20 | 38535152 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.807 | 0.200 | 10 | 87925551 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | X | 18584331 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.080 | 20 | 63444756 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.080 | 2 | 165374737 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.827 | 0.200 | 19 | 39480879 | stop gained | C/A;G;T | snv | 3.1E-03; 4.6E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.200 | 19 | 39482885 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 2 | 165367327 | stop gained | G/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
4 | 0.851 | 0.160 | 18 | 60373354 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.851 | 0.120 | 6 | 132472372 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 9 | 127666193 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.160 | X | 18579965 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |