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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 16 | 3757288 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.040 | 10 | 13136766 | missense variant | G/A | snv | 3.1E-03 | 1.0E-03 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 2 | 102766672 | intron variant | T/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.040 | 0.500 | 4 | 2005 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.040 | 0.500 | 4 | 2005 | 2018 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.600 | 5 | 2005 | 2018 | ||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.050 | 0.600 | 5 | 2004 | 2016 | |||
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.800 | 1.000 | 11 | 1998 | 2019 | |||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.750 | 1.000 | 6 | 2007 | 2019 | ||||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||
|
6 | 0.807 | 0.080 | 1 | 171636310 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.060 | 1.000 | 6 | 2003 | 2008 | |||
|
6 | 0.807 | 0.120 | 1 | 171636131 | missense variant | A/G | snv | 0.050 | 1.000 | 5 | 2003 | 2019 | |||||
|
14 | 0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 | 0.730 | 1.000 | 4 | 2007 | 2017 | |||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.040 | 1.000 | 4 | 2008 | 2017 | ||||
|
7 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
9 | 0.776 | 0.080 | 1 | 171636331 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 1998 | 2009 | |||||
|
2 | 0.925 | 0.040 | 1 | 171652476 | stop gained | G/A;C;T | snv | 7.2E-04; 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2004 | ||||
|
6 | 0.807 | 0.120 | 1 | 171652468 | missense variant | C/A | snv | 9.8E-04 | 1.3E-04 | 0.030 | 1.000 | 3 | 2005 | 2005 | |||
|
7 | 0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 | 0.710 | 1.000 | 2 | 2012 | 2012 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 |