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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.240 | 11 | 119278181 | missense variant | T/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 1 | 114713911 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 1 | 114713941 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 12 | 112450346 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.240 | 12 | 112450352 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 112472949 | inframe insertion | ACA/-;ACAACA | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
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 |