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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 0.810 | 1.000 | 14 | 2004 | 2017 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.810 | 1.000 | 14 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 17387989 | missense variant | A/C;G | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
6 | 0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv | 0.810 | 1.000 | 13 | 2004 | 2017 | |||||
|
4 | 0.882 | 0.120 | 11 | 17387206 | missense variant | T/C;G | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.160 | 11 | 17387913 | missense variant | A/G;T | snv | 0.700 | 1.000 | 13 | 2004 | 2017 | |||||
|
10 | 0.790 | 0.240 | 11 | 17387943 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.810 | 1.000 | 13 | 2004 | 2017 | ||||
|
4 | 0.851 | 0.240 | 11 | 17387934 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.160 | 11 | 17387916 | missense variant | A/C | snv | 0.810 | 1.000 | 13 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.160 | 11 | 17387593 | missense variant | T/G | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 17387583 | missense variant | T/C | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 17387582 | missense variant | C/G | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
6 | 0.827 | 0.280 | 11 | 17387491 | missense variant | G/A | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.160 | 11 | 17387190 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
1 | 1.000 | 0.080 | 11 | 17461731 | missense variant | A/G | snv | 0.810 | 1.000 | 5 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17404518 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2007 | ||||
|
3 | 0.882 | 0.160 | 11 | 17395852 | stop gained | C/A;T | snv | 1.5E-05 | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 17461719 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 17461618 | missense variant | A/C | snv | 2.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2006 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 17474961 | missense variant | T/C | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
4 | 0.851 | 0.240 | 11 | 17470119 | missense variant | A/C;G | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17461778 | missense variant | G/A;T | snv | 3.2E-05 | 0.800 | 1.000 | 4 | 2006 | 2007 | ||||
|
1 | 1.000 | 0.080 | 11 | 17461767 | missense variant | A/C | snv | 0.800 | 1.000 | 4 | 2006 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 17453151 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2006 | 2007 |