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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 14 | 95103856 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2009 | 2016 | |||||
|
3 | 1.000 | 0.040 | 14 | 95116680 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 14 | 95105698 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95106198 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 14 | 95103721 | stop gained | G/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 14 | 95115704 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 14 | 95113106 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 14 | 95105752 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096108 | stop gained | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95099846 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096387 | stop gained | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 14 | 95096266 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95108410 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124398 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124216 | stop gained | G/C | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95124326 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 95096282 | stop gained | -/T | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 14 | 95117624 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 95096067 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.040 | 14 | 95113166 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95124428 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95117723 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95112226 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 14 | 95111329 | stop gained | GC/TT | mnv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 14 | 95111326 | stop gained | G/T | snv | 0.700 | 0 |