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 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 1 | 146018352 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 3 | 149177980 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 17387594 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 17387407 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 17387104 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
7 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.020 | 1.000 | 2 | 1995 | 2002 | |||
|
8 | 0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.050 | 1.000 | 5 | 1996 | 2018 | |||
|
3 | 0.925 | 0.080 | 7 | 44146584 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.925 | 0.080 | 7 | 44153324 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 1998 | 1998 | ||||
|
1 | 11 | 5225612 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.842 | 38 | 1999 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.842 | 38 | 1999 | 2019 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.070 | 0.714 | 7 | 1999 | 2014 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.070 | 0.714 | 7 | 1999 | 2014 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.050 | 1.000 | 5 | 1999 | 2014 | ||||
|
4 | 0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 | 0.040 | 0.750 | 4 | 1999 | 2004 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.030 | 1.000 | 3 | 1999 | 2010 | ||||
|
3 | 0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 1999 | 2000 |