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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 8 | 115565487 | intron variant | TTTTTTT/-;T;TT;TTTTTT;TTTTTTTT | delins | 2.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 116019561 | intergenic variant | T/C | snv | 3.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
13 | 0.763 | 0.200 | 10 | 129766957 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 133471452 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 9 | 136462535 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 161680146 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 17095084 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 188370330 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 20 | 20052443 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.120 | 9 | 21971018 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.160 | 9 | 21971019 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.763 | 0.240 | 9 | 21971112 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.200 | 9 | 21974678 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.120 | 11 | 27391119 | stop gained | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.807 | 0.200 | 15 | 27985172 | missense variant | C/T | snv | 4.7E-02 | 4.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.763 | 0.200 | 15 | 28120472 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 1.000 | 0.080 | 15 | 28268218 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |