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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.720 | 1.000 | 10 | 1989 | 2016 | |||||
|
7 | 0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv | 0.750 | 1.000 | 9 | 1989 | 2018 | |||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 1989 | 2014 | |||||
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 18 | 1995 | 2014 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.760 | 1.000 | 17 | 1995 | 2016 | |||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 14 | 1995 | 2012 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.710 | 1.000 | 10 | 1995 | 2013 | |||||
|
9 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.700 | 1.000 | 9 | 1995 | 2011 | |||||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 8 | 1995 | 2011 | |||||
|
8 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 0.750 | 1.000 | 5 | 1995 | 2015 | ||||
|
8 | 0.790 | 0.080 | 16 | 89919510 | missense variant | C/A;G | snv | 5.2E-03; 4.0E-06 | 0.040 | 1.000 | 4 | 1996 | 2015 | ||||
|
27 | 0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 | 0.100 | 1.000 | 11 | 1997 | 2016 | ||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 1997 | 2014 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 1997 | 2004 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.700 | 1.000 | 7 | 1997 | 2004 | |||||
|
13 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 0.070 | 1.000 | 7 | 1997 | 2015 | ||||
|
6 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 0.060 | 1.000 | 6 | 1997 | 2007 | ||||
|
2 | 0.925 | 0.040 | 9 | 21971007 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 0.925 | 0.080 | 9 | 21971064 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
2 | 1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 1.000 | 0.040 | 6 | 36684145 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
12 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.800 | 1.000 | 10 | 1999 | 2016 | ||||
|
5 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1999 | 2015 | |||||
|
3 | 0.925 | 0.120 | 9 | 21971147 | missense variant | T/C;G | snv | 4.7E-06 | 0.020 | 1.000 | 2 | 1999 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 21971142 | missense variant | C/G;T | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 1999 | 2013 |