| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.850 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 128481901 | missense variant | G/A | snv |
|
0.820 | 1.000 | 2 | 2011 | 2012 | |||||||||
|
0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 |
|
0.720 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 |
|
0.710 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 |
|
0.100 | 0.929 | 14 | 2005 | 2018 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.040 | 1.000 | 4 | 2003 | 2015 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2012 | 2015 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 0.667 | 3 | 2012 | 2015 | |||||||||
|
0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | 0.667 | 3 | 2012 | 2015 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.020 | 1.000 | 2 | 2005 | 2013 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2012 | 2015 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.020 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2008 | 2013 | ||||||||
|
0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 |
|
0.020 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
17 | 7676271 | frameshift variant | -/A | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 9 | 113424228 | frameshift variant | -/G | delins | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 |