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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
4 | 0.882 | 0.200 | 13 | 32363204 | stop gained | A/G;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.280 | 13 | 32338598 | stop gained | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32376732 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.320 | 13 | 32319101 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 13 | 32370958 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 13 | 32333295 | stop gained | CGA/TTT | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32337635 | stop gained | A/C;T | snv | 4.4E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 13 | 32332667 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.320 | 13 | 32319109 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.280 | 13 | 32332877 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.440 | 13 | 32319154 | stop gained | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 13 | 32337185 | stop gained | A/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.320 | 13 | 32337464 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.776 | 0.280 | 13 | 32338277 | stop gained | G/A;T | snv | 5.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.240 | 13 | 32340000 | stop gained | C/A;G | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.280 | 13 | 32340146 | stop gained | C/T | snv | 0.710 | 1.000 | 0 | 2017 | 2017 | |||||
|
11 | 0.742 | 0.440 | 13 | 32340212 | stop gained | G/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.200 | 13 | 32340335 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 13 | 32341000 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.320 | 13 | 32341011 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.732 | 0.400 | 13 | 32346841 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 13 | 32354913 | stop gained | C/T | snv | 0.700 | 0 |