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 | 0.160 | 5 | 132378362 | intron variant | T/A | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 0.730 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.160 | 5 | 132387044 | stop gained | C/T | snv | 4.0E-05 | 4.9E-05 | 0.700 | 1.000 | 8 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132378380 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 1998 | 2010 | ||||
|
1 | 1.000 | 0.160 | 5 | 132387065 | stop gained | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2005 | 2014 | ||||
|
1 | 1.000 | 0.160 | 5 | 132390838 | stop gained | -/A | delins | 0.700 | 1.000 | 2 | 1999 | 2002 | |||||
|
1 | 1.000 | 0.160 | 5 | 132369984 | stop gained | C/G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||
|
1 | 1.000 | 0.160 | 5 | 132378475 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132390889 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 5 | 132390825 | stop gained | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 132370157 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370333 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132390809 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132393683 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 5 | 132385334 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132378408 | missense variant | G/A;T | snv | 1.2E-05; 5.6E-05 | 0.800 | 1.000 | 25 | 1990 | 2019 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 0.800 | 1.000 | 24 | 1999 | 2017 | ||||
|
3 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 0.800 | 1.000 | 24 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 0.800 | 1.000 | 23 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132384154 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 22 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392484 | missense variant | C/T | snv | 1.2E-05 | 4.2E-05 | 0.800 | 1.000 | 22 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132392576 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 22 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132384155 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 0.800 | 1.000 | 21 | 1999 | 2017 |