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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.833 | 48 | 2003 | 2020 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.833 | 42 | 2003 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.833 | 42 | 2003 | 2018 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.100 | 0.895 | 38 | 2000 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.813 | 32 | 2004 | 2019 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.800 | 0.929 | 28 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.080 | 13 | 32319167 | missense variant | A/G | snv | 0.700 | 1.000 | 25 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 13 | 32337891 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 25 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.080 | 13 | 32339543 | missense variant | A/T | snv | 8.2E-06 | 0.700 | 1.000 | 25 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.080 | 13 | 32326584 | missense variant | C/G;T | snv | 0.700 | 1.000 | 25 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 13 | 32340739 | missense variant | A/C;G | snv | 0.700 | 1.000 | 25 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.080 | 13 | 32329475 | missense variant | C/T | snv | 0.700 | 1.000 | 25 | 1997 | 2014 | |||||
|
4 | 0.882 | 0.200 | 13 | 32355219 | stop gained | C/G;T | snv | 0.700 | 1.000 | 25 | 1997 | 2014 | |||||
|
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 | |||||
|
1 | 1.000 | 0.080 | 17 | 43057071 | missense variant | C/G;T | snv | 0.700 | 1.000 | 25 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.080 | 17 | 43049145 | missense variant | C/A;G | snv | 1.2E-05 | 0.700 | 1.000 | 25 | 1994 | 2017 | ||||
|
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 | ||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 25 | 1997 | 2014 |