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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.280 | 3 | 179234302 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
37 | 0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
16 | 0.724 | 0.440 | 3 | 179234286 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 3 | 179234219 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 179234261 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 179210290 | inframe deletion | AGA/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 1 | 243613681 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2012 | 2017 | |||||
|
5 | 0.851 | 0.320 | 19 | 18162974 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2012 | 2017 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.320 | 3 | 179204536 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||
|
3 | 0.882 | 0.240 | 3 | 179204576 | missense variant | G/A | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||
|
4 | 0.851 | 0.320 | 3 | 179234230 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2012 | 2016 | |||||
|
5 | 0.882 | 0.200 | 3 | 179199160 | missense variant | T/A | snv | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.280 | 3 | 179230077 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 |