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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
7 | 0.827 | 0.160 | 7 | 76302805 | synonymous variant | G/A | snv | 8.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 | 0.020 | 1.000 | 2 | 1999 | 2001 | ||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.120 | 6 | 24357658 | missense variant | C/T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 9 | 8341203 | missense variant | G/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
3 | 0.882 | 0.080 | 15 | 88184270 | missense variant | G/A | snv | 8.0E-05 | 4.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 20 | 3864633 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
5 | 0.827 | 0.080 | 1 | 20633708 | missense variant | G/A | snv | 6.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 0.100 | 1.000 | 11 | 1995 | 2018 | |||
|
4 | 0.851 | 0.120 | 5 | 176626472 | missense variant | C/G;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.080 | 3 | 12416967 | missense variant | G/C | snv | 4.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.160 | 8 | 104244917 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 7 | 116782017 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.200 | 19 | 44907799 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.240 | 19 | 6495688 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.280 | 9 | 32974495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.080 | 1 | 3683085 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
6 | 0.807 | 0.120 | 1 | 11022301 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |