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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.200 | 12 | 114375303 | intron variant | T/C | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.280 | 9 | 95506484 | missense variant | A/C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
2 | 0.882 | 0.240 | 20 | 40642176 | regulatory region variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
40 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 7 | 75983548 | missense variant | G/C | snv | 2.4E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
62 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.280 | 11 | 17475004 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.827 | 0.320 | 7 | 22728600 | non coding transcript exon variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 0.925 | 0.200 | 11 | 2583439 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.925 | 0.240 | 8 | 90044993 | missense variant | G/A;C | snv | 4.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
48 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 1 | 79217216 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.280 | 19 | 7184592 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1991 | 1991 | |||||
|
24 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 0.925 | 0.200 | 20 | 40633339 | intergenic variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.200 | 3 | 56881691 | intron variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 5 | 95482583 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 5 | 95498426 | stop gained | A/C;G | snv | 6.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |