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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.160 | 10 | 87952258 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 10 | 87864524 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 87957867 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 19 | 1220416 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 19 | 1207058 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 19 | 1219352 | missense variant | G/C;T | snv | 0.800 | 0 | ||||||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 7930659 | stop gained | G/A;C | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 9 | 21971180 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.240 | 13 | 32380043 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.120 | 13 | 32338880 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 13 | 32394741 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 52405163 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.720 | 1.000 | 6 | 1986 | 2019 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 32 | 1989 | 2019 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.800 | 1.000 | 30 | 1989 | 2019 | |||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.780 | 1.000 | 21 | 1989 | 2016 | |||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.720 | 1.000 | 14 | 1989 | 2017 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 13 | 1989 | 2014 | |||||
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.740 | 1.000 | 12 | 1989 | 2018 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.740 | 1.000 | 11 | 1989 | 2016 | ||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 1989 | 2014 |