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 | 0.925 | 0.120 | 3 | 30674196 | missense variant | C/G;T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.120 | 3 | 30691504 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
7 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
4 | 0.851 | 0.160 | 3 | 30674228 | missense variant | C/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 30672189 | missense variant | T/A;G | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 30672246 | missense variant | G/A;C;T | snv | 8.2E-06; 8.2E-06 | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 30672252 | missense variant | G/T | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
4 | 0.851 | 0.240 | 3 | 30691478 | missense variant | G/A | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
3 | 0.882 | 0.120 | 3 | 30674229 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 30672106 | missense variant | T/C | snv | 0.800 | 1.000 | 13 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 30672313 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 2004 | 2012 | |||||
|
8 | 0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 30674123 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30674130 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30688511 | splice region variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 30691435 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30688382 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 3 | 30672250 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 3 | 30688476 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 30691421 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30688395 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 3 | 30674186 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 30671923 | missense variant | A/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 10 | 2004 | 2012 |