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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 2 | 26273656 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 8 | 103766303 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.360 | 8 | 85473779 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||
|
2 | 1.000 | 0.080 | X | 111142119 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.200 | X | 111196570 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.080 | X | 48901944 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.200 | X | 100662227 | missense variant | A/C | snv | 3.3E-05 | 2.9E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.200 | X | 54016662 | stop gained | T/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.200 | X | 54011232 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | Y | 1642868 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
3 | 0.925 | 0.200 | X | 119837771 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 0.200 | 10 | 3165320 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.200 | X | 100296654 | missense variant | C/T | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.200 | X | 119837956 | missense variant | C/T | snv | 4.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 3 | 70977021 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 3 | 70959372 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.280 | 3 | 142556117 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 19 | 11113444 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.200 | X | 30720721 | missense variant | A/G;T | snv | 5.4E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 1.000 | 0.200 | 8 | 116854423 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 87550272 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.120 | 16 | 46926991 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |