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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 1.000 | 3 | 2001 | 2005 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.020 | 1.000 | 2 | 2001 | 2005 | |||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.020 | 0.500 | 2 | 2001 | 2003 | ||||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2001 | 2006 | |||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2002 | 2017 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.080 | 1.000 | 8 | 2002 | 2017 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.050 | 1.000 | 5 | 2002 | 2013 | ||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.050 | 1.000 | 5 | 2002 | 2013 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.040 | 1.000 | 4 | 2002 | 2008 | |||
|
20 | 0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 | 0.030 | 0.667 | 3 | 2002 | 2009 | ||||
|
8 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2008 | |||||
|
4 | 0.851 | 0.080 | 19 | 6713295 | missense variant | C/G | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||
|
3 | 0.882 | 0.040 | 2 | 27222595 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.827 | 0.160 | 8 | 19954234 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.090 | 1.000 | 9 | 2003 | 2019 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.060 | 0.833 | 6 | 2003 | 2017 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.800 | 5 | 2003 | 2009 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.050 | 0.800 | 5 | 2003 | 2009 | |||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.030 | 1.000 | 3 | 2003 | 2011 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.030 | 1.000 | 3 | 2003 | 2012 | |||
|
10 | 0.763 | 0.200 | 15 | 39589977 | missense variant | A/G | snv | 7.9E-02 | 8.0E-02 | 0.020 | 0.500 | 2 | 2003 | 2011 | |||
|
18 | 0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2003 | 2005 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 |