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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 10 | 87957890 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 87508507 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2001 | 2001 | ||||||
|
1 | 1.000 | 12 | 64108967 | missense variant | C/T | snv | 1.1E-03 | 9.9E-04 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.667 | 0.480 | 11 | 533875 | missense variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 12 | 64016970 | missense variant | A/C;T | snv | 2.9E-05; 4.1E-06 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 10 | 87505037 | missense variant | C/T | snv | 0.800 | 0 | |||||||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 12 | 64127944 | missense variant | A/C;G | snv | 7.3E-03 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 12 | 64062938 | missense variant | G/A | snv | 0.800 | 0 |