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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | X | 77558781 | missense variant | C/T | snv | 0.800 | 1.000 | 6 | 1996 | 2005 | |||||
|
2 | 0.925 | 0.200 | X | 77684030 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1996 | 2005 | |||||
|
4 | 0.882 | 0.200 | X | 77589902 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1996 | 2005 | |||||
|
2 | 0.925 | 0.200 | X | 77684942 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 1996 | 2005 | |||||
|
2 | 0.925 | 0.200 | X | 77523290 | missense variant | T/C | snv | 5.5E-06 | 0.700 | 1.000 | 6 | 1996 | 2005 | ||||
|
7 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.200 | X | 77574322 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | X | 77688844 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 77684520 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 |