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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.320 | 4 | 1003418 | missense variant | C/G;T | snv | 5.6E-05 | 0.800 | 1.000 | 8 | 1993 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 1003102 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 8 | 1993 | 2011 | ||||
|
3 | 0.925 | 0.120 | 4 | 1002333 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 8 | 1993 | 2011 | ||||
|
4 | 0.882 | 0.120 | 4 | 1001802 | missense variant | T/A;G | snv | 2.2E-05; 4.4E-06 | 0.720 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.120 | 4 | 1004286 | stop gained | C/A;G;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 1.000 | 8 | 1993 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 1004307 | missense variant | T/A | snv | 7.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 1001982 | missense variant | G/A;C | snv | 2.1E-05; 5.2E-06 | 0.700 | 1.000 | 8 | 1993 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 1002383 | missense variant | C/T | snv | 8.3E-06 | 0.700 | 1.000 | 8 | 1993 | 2011 | ||||
|
3 | 0.882 | 0.120 | 4 | 1002435 | missense variant | A/G | snv | 1.8E-05 | 7.0E-06 | 0.700 | 1.000 | 8 | 1993 | 2011 | |||
|
3 | 0.882 | 0.120 | 4 | 1003120 | missense variant | C/G;T | snv | 1.4E-05 | 0.700 | 1.000 | 8 | 1993 | 2011 | ||||
|
5 | 0.851 | 0.120 | 4 | 1002747 | stop gained | G/A | snv | 5.9E-04 | 8.4E-04 | 0.700 | 1.000 | 7 | 1992 | 2018 | |||
|
6 | 0.827 | 0.280 | 4 | 987858 | stop gained | C/T | snv | 4.7E-04 | 6.1E-04 | 0.700 | 1.000 | 5 | 1992 | 2018 | |||
|
4 | 0.851 | 0.120 | 4 | 987916 | missense variant | G/A | snv | 9.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 4 | 1002387 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1004314 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 4 | 1004391 | stop lost | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 987886 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 987895 | missense variant | A/C | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 4 | 1002811 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 1001506 | missense variant | G/A;C | snv | 0.700 | 0 |