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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 1995 | 2017 | |||||
|
9 | 0.763 | 0.160 | 14 | 73198067 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 1999 | 2017 | |||||
|
23 | 0.716 | 0.200 | 17 | 46010324 | missense variant | T/G | snv | 2.6E-05 | 0.030 | 1.000 | 3 | 1999 | 2015 | ||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.030 | 1.000 | 3 | 2000 | 2016 | |||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 0.827 | 0.160 | 17 | 46024010 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.882 | 0.120 | 14 | 73171047 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2001 | 2012 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.030 | 1.000 | 3 | 2001 | 2018 | |||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
5 | 0.851 | 0.120 | 17 | 46014286 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2003 | |||||
|
4 | 0.882 | 0.080 | 14 | 73192745 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.827 | 0.200 | 17 | 45962351 | missense variant | G/A;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.040 | 1.000 | 4 | 2003 | 2014 | ||||
|
7 | 0.827 | 0.120 | 17 | 45996657 | missense variant | G/T | snv | 0.030 | 1.000 | 3 | 2003 | 2006 | |||||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
8 | 0.790 | 0.200 | 17 | 46014271 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.827 | 0.120 | 14 | 73186920 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |