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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 19 | 1226602 | synonymous variant | C/G;T | snv | 6.7E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.740 | 1.000 | 4 | 2003 | 2019 | ||||||||
|
0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 |
|
0.040 | 0.750 | 4 | 2003 | 2007 | |||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2003 | 2004 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.050 | 1.000 | 5 | 2004 | 2019 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2008 | ||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.050 | 1.000 | 5 | 2005 | 2020 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.050 | 0.600 | 5 | 2005 | 2020 | |||||||||
|
0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 |
|
0.020 | 1.000 | 2 | 2005 | 2006 | ||||||||
|
0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.060 | 0.833 | 6 | 2006 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.040 | 1.000 | 4 | 2006 | 2016 | |||||||
|
0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 |
|
0.020 | 1.000 | 2 | 2006 | 2012 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.120 | 2 | 233682175 | missense variant | T/C;G | snv | 4.0E-06; 1.4E-04 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.120 | 3 | 51386267 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.060 | 0.833 | 6 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |