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 | 0.120 | 9 | 34647531 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 0.800 | 1.000 | 32 | 1991 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 34647205 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 27 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34648849 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 27 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34648846 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.800 | 1.000 | 25 | 1991 | 2019 | |||
|
1 | 1.000 | 0.120 | 9 | 34647956 | missense variant | G/A;T | snv | 0.800 | 1.000 | 24 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647529 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 23 | 1991 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 34647858 | missense variant | C/G;T | snv | 4.0E-06; 2.5E-04 | 0.850 | 1.000 | 23 | 1992 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 34646771 | missense variant | A/G | snv | 0.810 | 1.000 | 22 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647695 | stop gained | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 22 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34646786 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34646731 | missense variant | G/C | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647101 | missense variant | T/A | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647119 | splice acceptor variant | A/C | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647136 | missense variant | G/A;T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647158 | missense variant | G/A;T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647140 | missense variant | C/T | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647227 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34647504 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34647682 | missense variant | A/C | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647696 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 21 | 1991 | 2016 | |||
|
1 | 1.000 | 0.120 | 9 | 34647665 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647669 | missense variant | A/C;T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34649042 | missense variant | C/T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34649043 | missense variant | T/G | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34649010 | missense variant | T/A;C | snv | 7.2E-05 | 0.800 | 1.000 | 21 | 1991 | 2016 |