| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 19 | 6495736 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1989 | 2017 | |||||||||
|
0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 10 | 103898989 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | 9 | 117704539 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.200 | 7 | 22728630 | non coding transcript exon variant | G/T | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 16 | 8806398 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 2 | 70450862 | synonymous variant | G/A | snv | 0.24 | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 16 | 8797949 | splice donor variant | G/T | snv | 1.4E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2000 | 2010 | |||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |