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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 11 | 64809695 | missense variant | G/C | snv | 0.810 | 1.000 | 29 | 1997 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805132 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 37 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64810045 | missense variant | A/C | snv | 0.800 | 1.000 | 28 | 1997 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 0.800 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64805717 | missense variant | G/T | snv | 0.800 | 1.000 | 28 | 1997 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805076 | missense variant | C/A | snv | 0.800 | 1.000 | 24 | 1997 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 64808042 | missense variant | A/G | snv | 0.800 | 1.000 | 18 | 1998 | 2018 | |||||
|
2 | 1.000 | 0.120 | 11 | 64808019 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 0.800 | 1.000 | 14 | 1997 | 2017 | ||||
|
2 | 1.000 | 0.120 | 11 | 64805122 | missense variant | C/T | snv | 0.800 | 1.000 | 9 | 2001 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64810075 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 2001 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805103 | missense variant | A/T | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64804503 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 11 | 64808078 | missense variant | C/A;T | snv | 0.710 | 1.000 | 9 | 2001 | 2017 | |||||
|
2 | 1.000 | 0.120 | 11 | 64810109 | start lost | T/A;C;G | snv | 0.710 | 1.000 | 6 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64804755 | stop gained | C/T | snv | 0.710 | 1.000 | 5 | 1999 | 2012 | |||||
|
5 | 0.882 | 0.160 | 11 | 64810025 | stop gained | G/A;C | snv | 4.2E-06 | 0.710 | 1.000 | 4 | 1998 | 2014 | ||||
|
1 | 1.000 | 0.120 | 11 | 64805056 | missense variant | G/T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 11 | 64806272 | missense variant | C/G;T | snv | 0.700 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64807902 | missense variant | C/T | snv | 0.700 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64805757 | missense variant | G/A;T | snv | 0.700 | 1.000 | 28 | 1997 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 64807662 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1997 | 2005 | |||||
|
2 | 1.000 | 0.120 | 11 | 64809680 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1997 | 2005 | |||||
|
1 | 1.000 | 0.120 | 11 | 64804537 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2005 | ||||
|
1 | 1.000 | 0.120 | 11 | 64809781 | missense variant | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1997 | 2005 | ||||
|
1 | 1.000 | 0.120 | 11 | 64808008 | missense variant | C/A;G | snv | 0.700 | 1.000 | 20 | 1997 | 2005 |