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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | X | 48793910 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
7 | 0.807 | 0.080 | 5 | 177512369 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | X | 130013883 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | X | 75053456 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.752 | 0.280 | 17 | 78925807 | upstream gene variant | C/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 20 | 50082788 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1 | 6 | 162262719 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 0.929 | 14 | 2005 | 2018 | ||||
|
2 | 1.000 | 0.040 | 16 | 55484157 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.080 | X | 40074459 | missense variant | C/A;T | snv | 6.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.732 | 0.360 | 19 | 45364096 | missense variant | C/T | snv | 2.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 15 | 40718847 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.200 | 17 | 76736877 | missense variant | G/A;C;T | snv | 6.3E-05; 2.9E-05; 1.2E-04 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 0.925 | 0.080 | 3 | 169131510 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
14 | 0.752 | 0.280 | 14 | 103699003 | missense variant | C/G;T | snv | 4.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 17 | 7673717 | synonymous variant | T/C | snv | 2.7E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 1.000 | 0.080 | 11 | 108259059 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 0.030 | 1.000 | 3 | 2016 | 2017 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.080 | 12 | 103982915 | missense variant | G/A;C;T | snv | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.160 | 12 | 112489093 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |