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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.900 | 0.974 | 21 | 1993 | 2018 | ||||||||
|
0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 |
|
0.900 | 0.974 | 8 | 1994 | 2019 | ||||||||
|
0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 |
|
0.890 | 1.000 | 9 | 1994 | 2017 | ||||||||
|
0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 |
|
0.880 | 1.000 | 8 | 1996 | 2018 | ||||||||
|
0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.870 | 1.000 | 28 | 1993 | 2018 | ||||||||
|
0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 |
|
0.870 | 1.000 | 20 | 1993 | 2018 | |||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.850 | 1.000 | 3 | 2002 | 2014 | ||||||||
|
0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
0.840 | 1.000 | 21 | 1993 | 2017 | ||||||||
|
0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv |
|
0.830 | 1.000 | 28 | 1993 | 2018 | |||||||||
|
0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv |
|
0.830 | 1.000 | 9 | 1994 | 2017 | |||||||||
|
0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.830 | 1.000 | 9 | 1994 | 2017 | ||||||||
|
0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 |
|
0.830 | 1.000 | 8 | 1996 | 2018 | ||||||||
|
0.807 | 0.160 | 10 | 43118458 | missense variant | G/C;T | snv | 4.0E-06; 2.0E-05 |
|
0.830 | 1.000 | 0 | 2012 | 2018 | ||||||||
|
0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 |
|
0.830 | 0.667 | 0 | 2010 | 2015 | ||||||||
|
0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 |
|
0.820 | 1.000 | 28 | 1993 | 2018 | ||||||||
|
0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv |
|
0.820 | 1.000 | 21 | 1993 | 2017 | |||||||||
|
0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 |
|
0.820 | 1.000 | 3 | 2005 | 2014 | ||||||||
|
0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 |
|
0.810 | 1.000 | 20 | 1993 | 2007 | ||||||||
|
0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 |
|
0.810 | 0.929 | 12 | 1993 | 2013 | ||||||||
|
0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv |
|
0.810 | 1.000 | 9 | 1994 | 2017 | |||||||||
|
0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv |
|
0.810 | 1.000 | 9 | 1996 | 2017 | |||||||||
|
0.790 | 0.120 | 10 | 43120120 | missense variant | GC/TT | mnv |
|
0.810 | 1.000 | 7 | 1994 | 2017 | |||||||||
|
0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 |
|
0.800 | 1.000 | 21 | 1993 | 2017 | ||||||||
|
0.882 | 0.120 | 10 | 43113629 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 21 | 1993 | 2017 | |||||||||
|
1.000 | 10 | 43109163 | missense variant | C/T | snv |
|
0.800 | 1.000 | 15 | 1994 | 2011 |