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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.800 | 0.983 | 175 | 2004 | 2020 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.800 | 0.983 | 175 | 2004 | 2020 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.800 | 0.983 | 175 | 2004 | 2020 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 29 | 2002 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 12 | 2002 | 2019 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.790 | 1.000 | 9 | 2002 | 2019 | ||||||||
|
0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv |
|
0.750 | 1.000 | 5 | 2004 | 2020 | |||||||||
|
0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv |
|
0.750 | 1.000 | 5 | 2004 | 2019 | |||||||||
|
0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv |
|
0.740 | 1.000 | 4 | 1990 | 2019 | |||||||||
|
0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv |
|
0.740 | 1.000 | 4 | 2004 | 2018 | |||||||||
|
0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv |
|
0.740 | 1.000 | 4 | 2004 | 2018 | |||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.730 | 0.750 | 3 | 2013 | 2019 | ||||||||
|
0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv |
|
0.720 | 1.000 | 2 | 1995 | 2016 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2002 | 2019 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 2 | 2002 | 2018 | ||||||||
|
1.000 | 0.080 | 4 | 113625548 | intron variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2015 | |||||||||
|
0.742 | 0.320 | 12 | 25245348 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 1 | 2002 | 2013 | |||||||||
|
1.000 | 0.080 | 7 | 118351841 | intron variant | A/G | snv | 0.27 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 |
|
0.710 | 1.000 | 1 | 2015 | 2019 | ||||||||
|
0.807 | 0.320 | 15 | 66435145 | missense variant | G/A | snv |
|
0.710 | 1.000 | 1 | 2007 | 2016 | |||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.100 | 0.980 | 406 | 2005 | 2020 | |||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 29 | 2011 | 2019 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.960 | 25 | 2004 | 2017 | |||||||
|
0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv |
|
0.100 | 0.938 | 16 | 2015 | 2020 |