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 | 0.160 | X | 67721934 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | X | 67722898 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 67545667 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | X | 67686033 | missense variant | A/G | snv | 3.1E-04 | 3.8E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | X | 67643409 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | X | 67546320 | missense variant | C/T | snv | 4.5E-03 | 2.0E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | X | 67717618 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | X | 67722944 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | X | 67717526 | missense variant | C/G | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.827 | 0.240 | X | 67722899 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.160 | X | 67545280 | missense variant | C/G | snv | 3.3E-05 | 2.5E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.160 | X | 67711453 | missense variant | C/A | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.160 | X | 67722858 | missense variant | C/A | snv | 1.3E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.160 | X | 67717535 | missense variant | G/A;T | snv | 0.810 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.160 | X | 67545150 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
5 | 0.827 | 0.240 | X | 67722976 | missense variant | G/A;T | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
3 | 0.882 | 0.200 | X | 67717595 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721937 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67717552 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721838 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67723688 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67643387 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.160 | X | 67721857 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 |