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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 19 | 43561236 | intron variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 19 | 45405792 | intron variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 5 | 150070569 | missense variant | T/C | snv | 9.9E-02 | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.160 | 1 | 7798075 | intron variant | G/C | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.200 | 2 | 203936863 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 55170434 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.160 | 17 | 78224125 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 3 | 105658671 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 1 | 20618562 | synonymous variant | C/T | snv | 0.31 | 0.34 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 1 | 112913924 | missense variant | A/T | snv | 0.59 | 0.66 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 5 | 83353158 | synonymous variant | T/A;G | snv | 4.0E-06; 0.23 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.160 | 17 | 7673789 | stop gained | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 |