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 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 1 | 220143109 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 20 | 13072400 | missense variant | T/C | snv | 2.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.080 | 3 | 25729208 | frameshift variant | ATTG/- | delins | 1.7E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 9 | 34990673 | missense variant | C/T | snv | 1.2E-04 | 1.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 8 | 81444935 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 8 | 81444908 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
7 | 0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 12 | 120438230 | splice donor variant | G/A;C | snv | 4.0E-06; 4.9E-05 | 0.700 | 0 | |||||||||
|
12 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.200 | 16 | 16178934 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 2 | 232540617 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 1 | 156115262 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
9 | 0.827 | 0.120 | 17 | 15231047 | missense variant | G/A | snv | 4.0E-03 | 3.7E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
6 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 |