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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.730 | 0.971 | 35 | 1991 | 2017 | ||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.720 | 1.000 | 40 | 1993 | 2017 | |||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.720 | 1.000 | 35 | 1993 | 2016 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.720 | 1.000 | 35 | 1995 | 2015 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 49 | 1993 | 2016 | ||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 26 | 1993 | 2016 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 19 | 1993 | 2011 | |||||
|
10 | 0.763 | 0.200 | 10 | 43112173 | missense variant | G/A;T | snv | 4.4E-05 | 0.710 | 1.000 | 10 | 2003 | 2014 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.710 | 1.000 | 10 | 1994 | 2016 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 25 | 1994 | 2014 | ||||
|
14 | 0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 17 | 1997 | 2019 | |||
|
10 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 13 | 1994 | 2018 | |||||
|
7 | 0.807 | 0.160 | 10 | 43118458 | missense variant | G/C;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 12 | 1998 | 2013 | ||||
|
5 | 0.827 | 0.120 | 10 | 43114489 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 1995 | 2015 | |||||
|
5 | 0.827 | 0.160 | 10 | 43121967 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 1994 | 2019 | |||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 10 | 1995 | 2008 | ||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.700 | 1.000 | 9 | 2005 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1996 | 2011 | |||||
|
5 | 0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 8 | 1996 | 2009 | |||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 1997 | 2015 | |||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 1994 | 2016 | ||||
|
6 | 0.827 | 0.160 | 10 | 43113656 | missense variant | C/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 6 | 1997 | 2011 | ||||
|
3 | 0.882 | 0.120 | 10 | 43113629 | missense variant | C/G;T | snv | 0.700 | 1.000 | 6 | 1993 | 2011 | |||||
|
8 | 0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv | 0.700 | 1.000 | 5 | 1999 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 43114496 | missense variant | GCTGT/CGTGC | mnv | 0.700 | 1.000 | 3 | 1993 | 1996 |