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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.870 | 1.000 | 12 | 2004 | 2019 | ||||
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.810 | 0.833 | 6 | 2002 | 2014 | ||||
|
10 | 0.763 | 0.280 | 17 | 43063931 | missense variant | G/A;T | snv | 2.4E-05; 8.0E-06 | 0.810 | 1.000 | 6 | 2004 | 2014 | ||||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.800 | 1.000 | 25 | 1994 | 2017 | ||||
|
4 | 0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 25 | 1994 | 2017 | ||||
|
10 | 0.807 | 0.160 | 17 | 43104122 | missense variant | C/A;G | snv | 1.2E-05 | 0.740 | 0.958 | 24 | 1994 | 2017 | ||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.730 | 1.000 | 23 | 1994 | 2019 | ||||
|
9 | 0.790 | 0.280 | 17 | 43051071 | missense variant | A/C;T | snv | 1.2E-05 | 0.710 | 1.000 | 21 | 1994 | 2017 | ||||
|
4 | 0.851 | 0.120 | 17 | 43104138 | missense variant | G/T | snv | 1.0E-04 | 4.2E-05 | 0.710 | 1.000 | 21 | 1994 | 2017 | |||
|
2 | 0.925 | 0.080 | 17 | 43047699 | stop gained | A/T | snv | 9.9E-05 | 2.0E-04 | 0.710 | 1.000 | 21 | 1994 | 2017 | |||
|
3 | 0.882 | 0.200 | 17 | 43097266 | missense variant | C/T | snv | 3.0E-04 | 2.2E-04 | 0.710 | 0.952 | 21 | 1994 | 2017 | |||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.200 | 17 | 43057062 | frameshift variant | -/G | delins | 1.8E-04 | 0.710 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 17 | 43051086 | missense variant | C/A;G | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 17 | 43094138 | missense variant | A/C | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43093876 | missense variant | C/A;T | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
2 | 0.925 | 0.080 | 17 | 43092856 | stop gained | A/C;G | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43092652 | missense variant | C/T | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43092457 | missense variant | G/A | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43092391 | missense variant | A/G | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43067624 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 43057126 | missense variant | C/T | snv | 0.700 | 1.000 | 25 | 1994 | 2017 |