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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 3 | 37001045 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2015 | ||||
|
6 | 0.851 | 0.200 | 3 | 37012098 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1996 | 2016 | ||||
|
2 | 1.000 | 0.080 | 3 | 37025844 | stop gained | A/G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2015 | |||||
|
3 | 0.925 | 0.160 | 3 | 37025817 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.240 | 3 | 37028833 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 3 | 37012011 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37008874 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37025985 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 3 | 37014509 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 3 | 37025895 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 3 | 37025979 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 3 | 37017521 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37020380 | stop gained | G/A;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 3 | 36993656 | stop gained | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 3 | 36996686 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37025976 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 40 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.120 | 3 | 37025734 | missense variant | A/C;G;T | snv | 3.2E-05; 4.8E-05; 8.0E-06 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 37048557 | missense variant | A/C;G | snv | 4.4E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 37025752 | missense variant | G/A;C;T | snv | 5.2E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
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 | 0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 31 | 2001 | 2017 |