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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.160 | 15 | 63060899 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.070 | 1.000 | 7 | 2000 | 2011 | |||
|
6 | 0.807 | 0.080 | 3 | 52451410 | missense variant | G/A;C;T | snv | 4.0E-05; 4.0E-06; 1.3E-04 | 0.040 | 1.000 | 4 | 2009 | 2017 | ||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 14 | 23429278 | missense variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2006 | 2020 | ||||
|
4 | 0.882 | 0.080 | 3 | 52452222 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2019 | |||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.030 | 1.000 | 3 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 15 | 63060915 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2011 | |||||
|
6 | 0.807 | 0.120 | 7 | 151560610 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2005 | 2007 | |||||
|
3 | 0.882 | 0.040 | 19 | 55157097 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
5 | 0.827 | 0.080 | 11 | 47342698 | missense variant | G/A | snv | 4.0E-05 | 9.8E-05 | 0.020 | 1.000 | 2 | 2010 | 2018 | |||
|
5 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
4 | 0.882 | 0.120 | 17 | 10692932 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.020 | 0.500 | 2 | 2009 | 2013 | |||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 11 | 19188245 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
9 | 0.776 | 0.360 | 11 | 533467 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 17 | 10692805 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
8 | 0.790 | 0.120 | 19 | 55154146 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.080 | 19 | 55151892 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.160 | 17 | 80112655 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.240 | 15 | 66436750 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 14 | 23424815 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 14 | 23424993 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |