Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.740 | 1.000 | 4 | 2003 | 2019 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.040 | 0.750 | 4 | 2003 | 2007 | |||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2003 | 2004 | ||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2019 | ||||
|
53 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2008 | ||||
|
12 | 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 | ||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2020 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2005 | 2020 | |||||
|
8 | 0.776 | 0.320 | 5 | 147828053 | missense variant | G/A;C | snv | 4.5E-03 | 0.020 | 1.000 | 2 | 2005 | 2006 | ||||
|
32 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
13 | 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 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.833 | 6 | 2006 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 1.000 | 4 | 2006 | 2016 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | |||
|
72 | 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 | ||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 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 | ||||
|
2 | 0.925 | 0.120 | 3 | 51386267 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.060 | 0.833 | 6 | 2007 | 2019 | ||||
|
9 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 4 | 168921582 | missense variant | C/T | snv | 7.2E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 9 | 21971119 | missense variant | T/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |