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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 11 | 108252912 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.080 | 16 | 68823545 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.120 | 7 | 55200379 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
37 | 0.627 | 0.520 | 11 | 533874 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.120 | 11 | 533873 | missense variant | CT/AC;TC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 12 | 25227308 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.120 | 11 | 64809738 | frameshift variant | GA/- | del | 0.700 | 0 | ||||||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 9 | 95459774 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 26 | 1996 | 2018 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 1995 | 2018 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.800 | 1.000 | 12 | 1997 | 2019 | ||||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.770 | 1.000 | 8 | 1995 | 2015 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.070 | 0.857 | 7 | 2009 | 2017 | ||||
|
14 | 0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.760 | 1.000 | 7 | 1997 | 2019 | |||
|
10 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 0.070 | 1.000 | 7 | 2008 | 2017 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.730 | 1.000 | 6 | 2002 | 2017 | ||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.750 | 0.833 | 6 | 2005 | 2015 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.740 | 1.000 | 5 | 1995 | 2009 | ||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.730 | 1.000 | 4 | 1999 | 2017 |