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 | 0.080 | X | 70035424 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 1996 | 2013 | |||||
|
1 | 1.000 | 0.080 | X | 70033426 | stop gained | G/A;T | snv | 0.700 | 1.000 | 2 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | X | 69616375 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | X | 70029527 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | X | 70035394 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | X | 70030493 | stop gained | C/G;T | snv | 5.8E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616491 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70027958 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616637 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69616655 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70028006 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 70035393 | stop gained | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 69957087 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 70033475 | missense variant | G/A | snv | 0.800 | 1.000 | 22 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 70033499 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 69957104 | missense variant | A/C | snv | 0.800 | 1.000 | 21 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 70035503 | missense variant | G/A;C | snv | 7.7E-05 | 0.700 | 1.000 | 20 | 1996 | 2016 | ||||
|
1 | 1.000 | 0.080 | X | 70030482 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1996 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 69957097 | missense variant | G/A;T | snv | 0.700 | 1.000 | 18 | 1998 | 2013 | |||||
|
6 | 0.807 | 0.120 | X | 69957093 | missense variant | C/T | snv | 1.9E-05 | 0.700 | 1.000 | 12 | 1998 | 2016 | ||||
|
1 | 1.000 | 0.080 | X | 69957096 | missense variant | C/T | snv | 0.700 | 1.000 | 7 | 1998 | 2011 | |||||
|
1 | 1.000 | 0.080 | X | 70035500 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1998 | 2011 | |||||
|
2 | 0.925 | 0.120 | X | 70033469 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 70035566 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 2001 | 2013 |