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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 0.700 | 0 | |||||||
|
24 | 0.683 | 0.360 | 6 | 32040110 | missense variant | G/A;C;T | snv | 1.2E-05; 5.3E-03 | 0.030 | 0.667 | 3 | 2000 | 2011 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.020 | 0.500 | 2 | 2000 | 2005 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.100 | 0.833 | 18 | 2001 | 2017 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.100 | 0.700 | 10 | 2001 | 2017 | ||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.090 | 0.667 | 9 | 2001 | 2017 | |||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.080 | 0.875 | 8 | 2001 | 2016 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.060 | 1.000 | 6 | 2001 | 2016 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.789 | 19 | 2002 | 2019 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.778 | 18 | 2002 | 2013 | |||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.900 | 10 | 2003 | 2019 | |||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2003 | 2014 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.851 | 0.320 | 18 | 63901881 | stop gained | C/A;T | snv | 7.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.827 | 0.320 | 1 | 94532395 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.727 | 11 | 2004 | 2019 | ||||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.060 | 0.833 | 6 | 2004 | 2019 | |||
|
2 | 0.925 | 0.200 | 20 | 50510548 | missense variant | C/G;T | snv | 6.4E-06; 4.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
10 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 0.030 | 1.000 | 3 | 2005 | 2015 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | 12 | 56769532 | intron variant | C/G;T | snv | 0.040 | 0.250 | 4 | 2006 | 2015 | |||||
|
6 | 0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 | 0.030 | 1.000 | 3 | 2006 | 2011 |