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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 11 | 1999 | 2016 | |||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.090 | 1.000 | 9 | 2007 | 2017 | ||||
|
12 | 0.763 | 0.160 | 6 | 39357302 | missense variant | A/G | snv | 0.41 | 0.49 | 0.090 | 1.000 | 9 | 2007 | 2018 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.090 | 1.000 | 9 | 2003 | 2019 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.080 | 1.000 | 8 | 2002 | 2017 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.070 | 1.000 | 7 | 2009 | 2016 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.060 | 1.000 | 6 | 2001 | 2009 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.060 | 1.000 | 6 | 2005 | 2012 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.060 | 1.000 | 6 | 2005 | 2012 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.060 | 1.000 | 6 | 2010 | 2018 | |||
|
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 | |||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.040 | 1.000 | 4 | 2001 | 2015 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.040 | 1.000 | 4 | 2006 | 2011 | |||
|
11 | 0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 | 0.040 | 1.000 | 4 | 2001 | 2015 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.040 | 1.000 | 4 | 2002 | 2008 | |||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.040 | 1.000 | 4 | 1995 | 2016 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.040 | 1.000 | 4 | 2010 | 2018 | ||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.040 | 1.000 | 4 | 2009 | 2019 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.030 | 1.000 | 3 | 2003 | 2011 | |||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
11 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 0.030 | 1.000 | 3 | 2011 | 2013 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.030 | 1.000 | 3 | 2003 | 2012 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 1.000 | 3 | 2001 | 2005 |