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 | 0.882 | 0.160 | 11 | 89178183 | missense variant | G/A | snv | 8.4E-05 | 5.6E-05 | 0.810 | 1.000 | 25 | 1990 | 2015 | |||
|
5 | 0.827 | 0.160 | 11 | 89178195 | missense variant | C/T | snv | 8.4E-05 | 1.7E-04 | 0.810 | 1.000 | 21 | 1990 | 2014 | |||
|
4 | 0.882 | 0.160 | 11 | 89178093 | missense variant | G/A | snv | 1.6E-04 | 2.8E-04 | 0.810 | 1.000 | 21 | 1990 | 2014 | |||
|
1 | 1.000 | 0.160 | 11 | 89178599 | missense variant | T/A;C | snv | 1.6E-05; 8.0E-06 | 0.810 | 1.000 | 1 | 1993 | 1993 | ||||
|
6 | 0.827 | 0.160 | 11 | 89227933 | missense variant | G/A | snv | 9.2E-05 | 3.5E-05 | 0.800 | 1.000 | 22 | 1990 | 2014 | |||
|
7 | 0.807 | 0.160 | 11 | 89284805 | missense variant | C/T | snv | 3.8E-03; 4.0E-06 | 3.7E-03 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
8 | 0.790 | 0.160 | 11 | 89191205 | missense variant | G/A;T | snv | 8.0E-06; 9.2E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.160 | 11 | 89227932 | missense variant | C/A;T | snv | 4.0E-06; 6.8E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
2 | 0.925 | 0.160 | 11 | 89284797 | missense variant | G/A;T | snv | 4.0E-06; 3.6E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
2 | 0.925 | 0.160 | 11 | 89284924 | missense variant | G/A | snv | 4.0E-05 | 1.1E-04 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
1 | 1.000 | 0.160 | 11 | 89284930 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.160 | 11 | 89178225 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.160 | 11 | 89227850 | missense variant | C/G;T | snv | 1.6E-05; 1.4E-04 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
9 | 0.807 | 0.200 | 11 | 89178218 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
1 | 1.000 | 0.160 | 11 | 89178078 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1990 | 2014 | |||||
|
5 | 0.851 | 0.160 | 11 | 89178117 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.160 | 11 | 89178569 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.160 | 11 | 89178014 | missense variant | C/T | snv | 3.6E-05 | 1.4E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
1 | 1.000 | 0.160 | 11 | 89178182 | missense variant | C/T | snv | 2.4E-05; 3.2E-05 | 6.3E-05 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
2 | 0.925 | 0.160 | 11 | 89284843 | missense variant | G/A | snv | 6.4E-05 | 7.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2014 | |||
|
2 | 0.925 | 0.160 | 11 | 89178603 | missense variant | G/A;C;T | snv | 2.6E-04; 1.2E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.160 | 11 | 89178660 | stop gained | G/A;C | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 11 | 89284880 | missense variant | C/A;T | snv | 4.0E-06 | 0.710 | 1.000 | 21 | 1990 | 2014 | ||||
|
6 | 0.827 | 0.160 | 11 | 89227904 | missense variant | C/A | snv | 3.4E-04 | 5.0E-04 | 0.710 | 1.000 | 9 | 1990 | 2013 | |||
|
1 | 1.000 | 0.160 | 11 | 89227895 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2013 | 2013 |