| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 2 | 1986 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 8 | 1989 | 2016 | |||||||||
|
0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv |
|
0.750 | 1.000 | 5 | 1989 | 2018 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 4 | 1989 | 2016 | ||||||||
|
0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv |
|
0.740 | 1.000 | 4 | 1989 | 2018 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 2 | 1989 | 2016 | |||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 1989 | 2017 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.760 | 1.000 | 6 | 1995 | 2016 | |||||||||
|
0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 |
|
0.750 | 1.000 | 5 | 1995 | 2015 | ||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.710 | 1.000 | 1 | 1995 | 2013 | |||||||||
|
0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 |
|
0.040 | 1.000 | 4 | 1996 | 2015 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 11 | 1997 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
0.070 | 1.000 | 7 | 1997 | 2015 | ||||||||
|
0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2007 | ||||||||
|
0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 9 | 21971064 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
0.800 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv |
|
0.050 | 1.000 | 5 | 1999 | 2015 | |||||||||
|
0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 |
|
0.020 | 1.000 | 2 | 1999 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 21971142 | missense variant | C/G;T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 1999 | 2013 | ||||||||
|
0.882 | 0.120 | 9 | 21971099 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 1999 | 2013 |