| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 |
|
0.720 | 1.000 | 1 | 2003 | 2015 | |||||||
|
0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 |
|
0.730 | 1.000 | 1 | 2003 | 2014 | |||||||
|
0.882 | 0.240 | 3 | 10142088 | missense variant | C/T | snv | 2.0E-04 | 3.8E-04 |
|
0.720 | 1.000 | 1 | 2013 | 2017 | |||||||
|
0.882 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.780 | 1.000 | 1 | 1995 | 2020 | ||||||||
|
1.000 | 0.080 | 8 | 38428420 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.770 | 1.000 | 2 | 2012 | 2020 | ||||||||
|
0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
9 | 21971178 | stop gained | C/A;T | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.827 | 0.160 | 9 | 21971187 | stop gained | G/A;C | snv | 4.6E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.800 | 0.909 | 1 | 2006 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 2061946 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.780 | 0.778 | 1 | 2004 | 2019 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.947 | 1 | 2003 | 2020 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.780 | 0.909 | 3 | 2000 | 2019 | ||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.730 | 0.800 | 2 | 2004 | 2015 | ||||||||
|
5 | 68295271 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
12 | 56088073 | missense variant | C/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.689 | 0.240 | 20 | 58909365 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.760 | 0.857 | 1 | 1999 | 2019 | ||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.740 | 1.000 | 1 | 2014 | 2016 |