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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 1 | 114716060 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 112450389 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 7 | 140753392 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 2 | 39023118 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
16 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 7 | 140777013 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
18 | 0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 1 | 155904456 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 2 | 39013523 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 112472969 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 12 | 112450357 | inframe deletion | GTG/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 1 | 155904493 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 1 | 114716090 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 112450360 | inframe deletion | GAT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 15 | 66436818 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 2 | 2010 | 2014 | |||
|
5 | 0.882 | 0.160 | 12 | 112446385 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
9 | 0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
2 | 0.925 | 0.160 | 14 | 50161551 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 11 | 63544632 | missense variant | G/A | snv | 4.4E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |