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 | 0.851 | 0.200 | 17 | 10535137 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
10 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
8 | 0.851 | 0.040 | 12 | 110914287 | frameshift variant | -/CT | ins | 8.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.080 | 19 | 13371744 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
17 | 0.724 | 0.280 | 7 | 150948445 | frameshift variant | CT/G | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.724 | 0.280 | 7 | 150948446 | frameshift variant | -/GTCCG | ins | 4.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 6 | 152401278 | missense variant | C/T | snv | 9.3E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.080 | 1 | 154173113 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 1 | 154173179 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1 | 17011736 | start lost | C/A | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 171434679 | synonymous variant | C/T | snv | 7.4E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
11 | 0.807 | 0.200 | 2 | 219420939 | missense variant | G/A;C;T | snv | 6.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.925 | 0.160 | 2 | 219421365 | missense variant | G/A;C | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.200 | 2 | 219421532 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |