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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 6 | 2012 | 2017 | |||
|
3 | 1.000 | 0.080 | 2 | 214752472 | stop gained | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2015 | 2016 | ||||
|
5 | 0.882 | 0.200 | 2 | 214730491 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | |||
|
2 | 1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2004 | 2017 | |||||
|
1 | 2 | 214781426 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
1 | 2 | 214792327 | stop gained | G/A;T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 2 | 214780662 | stop gained | G/C | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 2 | 214728742 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 214781066 | stop gained | C/A;G;T | snv | 4.2E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 214769242 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 2 | 214745720 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214728867 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214745788 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214767480 | splice donor variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214769282 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780592 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780718 | stop gained | C/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214781221 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214781501 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780970 | stop gained | T/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214792389 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214792414 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 214780658 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 2 | 214781165 | stop gained | G/A;C;T | snv | 7.8E-05; 4.6E-06 | 0.700 | 0 |