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 | X | 77688843 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77633696 | missense variant | T/C | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77633682 | missense variant | A/G | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77633572 | missense variant | C/A;T | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77593702 | missense variant | T/A | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77574326 | missense variant | A/G | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77558685 | missense variant | T/C | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
2 | 0.925 | 0.240 | X | 77688844 | missense variant | G/C | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77620442 | missense variant | C/T | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
3 | 0.882 | 0.240 | X | 77684520 | missense variant | G/A | snv | 0.800 | 1.000 | 12 | 1995 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77633660 | missense variant | G/A | snv | 5.5E-06 | 0.800 | 1.000 | 12 | 1995 | 2011 | ||||
|
1 | 1.000 | 0.120 | X | 77654098 | splice region variant | C/T | snv | 0.700 | 1.000 | 2 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | X | 77684527 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 77589929 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | X | 77520832 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 77520826 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | X | 77558781 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.320 | X | 77717155 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 77633302 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 77520796 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 77684505 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
9 | 0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |