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 | 0.900 | 0.974 | 38 | 1994 | 2019 | ||||
|
7 | 0.790 | 0.120 | 10 | 43120120 | missense variant | GC/TT | mnv | 0.810 | 1.000 | 11 | 1994 | 2017 | |||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.720 | 1.000 | 3 | 1997 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 10 | 1994 | 2011 | |||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 2 | 1995 | 2017 | ||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2011 | ||||
|
11 | 0.742 | 0.160 | 10 | 43114488 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
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 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1995 | 1995 | ||||
|
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 | ||||
|
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 | |||||
|
7 | 0.790 | 0.240 | 10 | 43114547 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 43112884 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120119 | missense variant | AGC/TTT | mnv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 43118430 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 10 | 43119555 | missense variant | A/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.160 | 10 | 43121967 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |