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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 40 | 1996 | 2017 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.800 | 1.000 | 30 | 1996 | 2013 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 31 | 2001 | 2017 | ||||
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.800 | 1.000 | 29 | 1996 | 2014 | |||||
|
4 | 0.851 | 0.200 | 3 | 37008905 | missense variant | G/A;C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
6 | 0.851 | 0.160 | 3 | 37040276 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
5 | 0.851 | 0.160 | 3 | 37047550 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 15 | 2001 | 2017 | ||||
|
7 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 0.800 | 1.000 | 15 | 2001 | 2017 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048973 | missense variant | C/A;G;T | snv | 1.2E-05; 2.0E-05 | 0.800 | 1.000 | 12 | 2001 | 2015 | ||||
|
6 | 0.851 | 0.200 | 3 | 37012098 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2016 | ||||
|
6 | 0.851 | 0.240 | 3 | 37048515 | splice acceptor variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2004 | 2017 | ||||
|
6 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 37001058 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37011867 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.160 | 3 | 36996702 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 3 | 36993632 | missense variant | G/T | snv | 0.700 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | 3 | 36993661 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2012 | ||||
|
4 | 0.882 | 0.160 | 3 | 37048604 | missense variant | A/C;T | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
5 | 0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 |