| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.977 | 42 | 2010 | 2020 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2011 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 14 | 2011 | 2019 | |||||||||
|
0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv |
|
0.080 | 1.000 | 8 | 2013 | 2018 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.740 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2013 | 2017 | |||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.740 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv |
|
0.030 | 1.000 | 3 | 2012 | 2018 | |||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.030 | 1.000 | 3 | 2011 | 2020 | |||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.020 | < 0.001 | 2 | 2005 | 2020 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2017 | ||||||||
|
0.851 | 0.040 | 6 | 30898095 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.280 | 13 | 32332796 | frameshift variant | -/CT | ins |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 19 | 48799813 | missense variant | G/A;C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 17 | 44907319 | 3 prime UTR variant | G/C;T | snv | 0.27; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 2 | 15940679 | frameshift variant | C/-;CC | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.710 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2016 | 2018 |