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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||
|
21 | 0.695 | 0.320 | 12 | 12718165 | missense variant | T/A;C;G | snv | 1.6E-04; 1.6E-05; 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
7 | 0.790 | 0.120 | 10 | 43120120 | missense variant | GC/TT | mnv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.882 | 0.160 | 11 | 64810025 | stop gained | G/A;C | snv | 4.2E-06 | 0.710 | 1.000 | 4 | 1998 | 2014 | ||||
|
3 | 0.882 | 0.160 | 11 | 67483205 | missense variant | G/A | snv | 2.0E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 11 | 64810034 | stop gained | C/A;T | snv | 0.700 | 1.000 | 20 | 1997 | 2005 | |||||
|
3 | 0.925 | 0.120 | 11 | 64809858 | frameshift variant | ACAG/- | delins | 0.700 | 1.000 | 10 | 1997 | 2014 | |||||
|
4 | 0.925 | 0.120 | 11 | 64808078 | missense variant | C/A;T | snv | 0.710 | 1.000 | 9 | 2001 | 2017 | |||||
|
2 | 0.925 | 0.120 | 11 | 64805722 | missense variant | T/A | snv | 7.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 11 | 64807566 | frameshift variant | -/AGCTCCA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 11 | 64810048 | missense variant | C/A;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 11 | 64806322 | missense variant | G/A | snv | 0.700 | 0 |