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 | 0.925 | 0.200 | X | 153743211 | intron variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 153736510 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.160 | X | 153743495 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 153737192 | stop gained | G/A;T | snv | 2.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 153736390 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 153736126 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 153736156 | stop gained | G/C;T | snv | 2.7E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | X | 153736408 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 153726062 | missense variant | G/A | snv | 0.800 | 1.000 | 32 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153740155 | missense variant | C/G;T | snv | 0.800 | 1.000 | 28 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153736232 | missense variant | G/A | snv | 0.800 | 1.000 | 27 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153736196 | missense variant | G/A | snv | 0.800 | 1.000 | 27 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153743031 | missense variant | G/A | snv | 0.800 | 1.000 | 25 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153740711 | missense variant | G/A | snv | 0.800 | 1.000 | 25 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153740618 | missense variant | C/T | snv | 0.810 | 1.000 | 25 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153740710 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1993 | 2019 | |||||
|
1 | 1.000 | 0.160 | X | 153736195 | missense variant | C/G;T | snv | 0.800 | 1.000 | 24 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153743022 | missense variant | T/A;C | snv | 1.3E-05; 3.8E-04 | 0.800 | 1.000 | 24 | 1993 | 2016 | ||||
|
1 | 1.000 | 0.160 | X | 153740156 | missense variant | G/A | snv | 5.5E-06 | 0.810 | 1.000 | 22 | 1993 | 2016 | ||||
|
1 | 1.000 | 0.160 | X | 153726137 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153737214 | missense variant | C/G | snv | 0.800 | 1.000 | 21 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153725709 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1993 | 2016 | |||||
|
1 | 1.000 | 0.160 | X | 153725786 | missense variant | T/G | snv | 0.800 | 1.000 | 21 | 1993 | 2016 | |||||
|
1 | 0.925 | 0.160 | X | 153740147 | missense variant | C/T | snv | 0.810 | 1.000 | 21 | 1993 | 2016 | |||||
|
2 | 0.925 | 0.160 | X | 153743023 | missense variant | C/T | snv | 9.4E-06 | 0.800 | 1.000 | 21 | 1993 | 2016 |