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 | 0.040 | X | 18647212 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 0.800 | 1.000 | 25 | 1997 | 2016 | |||
|
2 | 0.925 | 0.040 | X | 18642105 | missense variant | G/A;T | snv | 0.800 | 1.000 | 24 | 1997 | 2016 | |||||
|
1 | 1.000 | X | 18642054 | missense variant | G/A;C | snv | 0.800 | 1.000 | 21 | 1997 | 2017 | ||||||
|
3 | 0.882 | 0.040 | X | 18642071 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1997 | 2016 | |||||
|
1 | 1.000 | X | 18642089 | missense variant | C/G;T | snv | 5.5E-06 | 0.800 | 1.000 | 20 | 1997 | 2017 | |||||
|
1 | 1.000 | X | 18647251 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1997 | 2016 | ||||||
|
2 | 0.925 | 0.040 | X | 18644530 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1997 | 2016 | |||||
|
1 | 1.000 | X | 18647309 | missense variant | C/G;T | snv | 0.800 | 1.000 | 19 | 1997 | 2016 | ||||||
|
3 | 0.882 | 0.040 | X | 18647303 | missense variant | C/G;T | snv | 1.1E-05 | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||
|
1 | 1.000 | X | 18642012 | missense variant | A/G | snv | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||||
|
1 | 1.000 | X | 18647301 | missense variant | C/G;T | snv | 5.5E-06 | 0.800 | 1.000 | 13 | 1997 | 2016 | |||||
|
2 | 0.925 | 0.040 | X | 18647296 | missense variant | C/A | snv | 9.5E-06 | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||
|
2 | 0.925 | 0.040 | X | 18647192 | missense variant | C/A;G | snv | 1.6E-05 | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||
|
1 | 1.000 | X | 18672031 | missense variant | A/G | snv | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||||
|
1 | 1.000 | X | 18647231 | missense variant | A/G | snv | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||||
|
3 | 0.925 | 0.040 | X | 18647213 | missense variant | G/A | snv | 5.5E-06 | 0.800 | 1.000 | 13 | 1997 | 2016 | ||||
|
1 | 1.000 | X | 18647191 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||||
|
1 | 1.000 | X | 18642102 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||||
|
2 | 0.925 | 0.040 | X | 18642101 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | |||||
|
2 | 0.925 | 0.040 | X | 18642090 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | |||||
|
1 | 1.000 | X | 18642083 | missense variant | A/G | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||||
|
1 | 1.000 | X | 18642081 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||||
|
1 | 1.000 | X | 18642080 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||||
|
2 | 0.925 | 0.040 | X | 18642058 | missense variant | G/A;C;T | snv | 5.5E-06 | 0.700 | 1.000 | 13 | 1997 | 2016 | ||||
|
3 | 0.882 | 0.040 | X | 18642053 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1997 | 2016 |