| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.979 | 30 | 2002 | 2020 | ||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.800 | 1.000 | 22 | 2002 | 2020 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.800 | 0.981 | 19 | 2002 | 2020 | |||||||||
|
0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 18 | 1995 | 2014 | |||||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 16 | 1989 | 2019 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.800 | 1.000 | 14 | 1989 | 2019 | |||||||||
|
0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 14 | 1995 | 2012 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 14 | 2002 | 2014 | |||||||||
|
0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv |
|
0.780 | 1.000 | 13 | 1989 | 2016 | |||||||||
|
0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 13 | 1989 | 2014 | |||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.720 | 1.000 | 13 | 1989 | 2017 | |||||||||
|
0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv |
|
0.760 | 1.000 | 13 | 1995 | 2016 | |||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 12 | 2002 | 2018 | |||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2002 | 2014 | ||||||||
|
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 | ||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.710 | 1.000 | 9 | 1995 | 2013 | |||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 1989 | 2014 | |||||||||
|
0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv |
|
0.740 | 1.000 | 9 | 1989 | 2018 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 9 | 1995 | 2011 | |||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.720 | 1.000 | 8 | 1989 | 2016 | |||||||||
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 8 | 1997 | 2014 | |||||||||
|
0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 8 | 1995 | 2011 | |||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.740 | 1.000 | 7 | 1989 | 2016 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 7 | 2002 | 2016 | ||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 7 | 1997 | 2004 |