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 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | X | 111681268 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 12 | 121442391 | missense variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.120 | 9 | 127661140 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 9 | 127666193 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.120 | 6 | 132472372 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 143312968 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 5 | 143347628 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 5 | 143350811 | intron variant | G/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 5 | 143376439 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 165310541 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.120 | 2 | 165367327 | stop gained | G/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
5 | 0.827 | 0.080 | 2 | 165374737 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 166065518 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | X | 18579965 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.200 | X | 18584331 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
17 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 16 | 2085323 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
19 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 22 | 33435602 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 |