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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2011 | 2013 | ||||||||
|
1.000 | 0.040 | 12 | 120691123 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 117236324 | intron variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 110291574 | intron variant | C/T | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 8 | 64379319 | intron variant | A/G | snv | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 110229026 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 17 | 36065936 | intron variant | G/A | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 19 | 44893408 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 21 | 33025263 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 12 | 120694297 | intron variant | C/T | snv | 7.3E-05; 0.43 | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv |
|
0.700 | 1.000 | 3 | 1989 | 2017 | |||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 |
|
0.700 | 0 | |||||||||||
|
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 | ||||||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2000 | 2010 | |||||||||
|
0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |