| 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 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.160 | 2 | 38074751 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 13 | 28052566 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 51225221 | missense variant | C/G;T | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 19 | 33302132 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 3 | 14158631 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 16 | 57655971 | synonymous variant | T/C | snv | 0.76 | 0.79 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 7 | 124892377 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 19 | 856000 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.040 | 15 | 74044940 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 9 | 5054778 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 9 | 5126715 | missense variant | A/G | snv | 2.0E-03 | 2.1E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 208248486 | missense variant | T/C | snv | 3.6E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 13 | 102862707 | synonymous variant | A/C | snv | 1.2E-05 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 25243904 | missense variant | C/T | snv |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 9 | 5126768 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.040 | 21 | 34887018 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 17 | 10398875 | stop gained | G/A | snv | 7.1E-04 | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |