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 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 0.820 | 1.000 | 21 | 1997 | 2017 | |||
|
7 | 0.790 | 0.160 | 4 | 67754019 | missense variant | T/C | snv | 2.8E-03 | 2.3E-03 | 0.820 | 1.000 | 19 | 1997 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 67740616 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.810 | 1.000 | 13 | 1997 | 2014 | |||
|
2 | 0.925 | 0.040 | 4 | 67753920 | missense variant | C/T | snv | 1.4E-04 | 2.1E-04 | 0.800 | 1.000 | 19 | 1997 | 2015 | |||
|
1 | 1.000 | 0.040 | 4 | 67753950 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 0.800 | 1.000 | 12 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 67744659 | missense variant | G/T | snv | 0.800 | 1.000 | 12 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 67753832 | missense variant | A/T | snv | 0.800 | 1.000 | 12 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.040 | 4 | 67754306 | missense variant | A/T | snv | 1.3E-04 | 6.3E-05 | 0.800 | 1.000 | 12 | 1997 | 2014 | |||
|
4 | 0.882 | 0.160 | 4 | 67754068 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.800 | 1.000 | 12 | 1997 | 2014 | |||
|
4 | 0.851 | 0.160 | 4 | 67753825 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1997 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 67754089 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 12 | 1997 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 67753900 | missense variant | G/A;T | snv | 1.3E-03 | 0.700 | 1.000 | 12 | 1997 | 2014 | ||||
|
3 | 0.882 | 0.160 | 4 | 67740670 | missense variant | A/C | snv | 8.0E-06 | 5.6E-05 | 0.700 | 1.000 | 12 | 1997 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 67754226 | missense variant | A/C | snv | 0.700 | 1.000 | 12 | 1997 | 2014 | |||||
|
1 | 1.000 | 0.040 | 4 | 67754242 | splice donor variant | T/C | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 4 | 67740526 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 4 | 67740508 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 4 | 67754305 | missense variant | GA/TT | mnv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 4 | 67753986 | missense variant | A/C | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 4 | 67754283 | missense variant | T/C | snv | 1.9E-04 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 4 | 67744788 | splice acceptor variant | C/T | snv | 0.700 | 0 |