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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.810 | 1.000 | 0 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 25 | 1997 | 2014 | ||||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 2004 | 2014 | ||||
|
10 | 0.763 | 0.320 | 13 | 32362596 | missense variant | A/G;T | snv | 0.800 | 0 | ||||||||
|
21 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.740 | 0.800 | 1 | 2013 | 2016 | |||
|
1 | 0.827 | 0.240 | 13 | 32363389 | missense variant | G/A;T | snv | 7.9E-04 | 0.730 | 1.000 | 0 | 2003 | 2017 | ||||
|
1 | 0.925 | 0.080 | 13 | 32339667 | missense variant | G/A;T | snv | 3.4E-04; 4.0E-06 | 0.710 | 1.000 | 20 | 1997 | 2016 | ||||
|
5 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.710 | 1.000 | 0 | 2020 | 2020 | ||||
|
9 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 0.710 | 1.000 | 0 | 2017 | 2017 | |||||
|
2 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.710 | 1.000 | 0 | 2016 | 2016 | |||
|
1 | 0.925 | 0.080 | 13 | 32319100 | missense variant | T/C;G | snv | 0.710 | 1.000 | 0 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.200 | 13 | 32394717 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 7.6E-05 | 0.710 | 1.000 | 0 | 1996 | 1996 | ||||
|
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 | 13 | 32319250 | missense variant | T/A;C;G | snv | 2.4E-05; 8.0E-06 | 0.700 | 1.000 | 25 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.080 | 13 | 32337158 | missense variant | G/A;C;T | snv | 6.1E-04; 6.4E-05 | 0.700 | 1.000 | 20 | 1997 | 2006 | ||||
|
1 | 1.000 | 0.080 | 13 | 32356536 | missense variant | C/T | snv | 5.8E-04 | 4.8E-04 | 0.700 | 1.000 | 20 | 1997 | 2006 | |||
|
1 | 0.882 | 0.120 | 13 | 32363384 | missense variant | G/A;C | snv | 2.1E-03; 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2006 | ||||
|
1 | 1.000 | 0.080 | 13 | 32339766 | missense variant | T/C | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2006 | |||
|
1 | 1.000 | 0.080 | 13 | 32319200 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2006 |