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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2006 | ||||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 4 | 2010 | 2017 | |||
|
8 | 0.882 | 0.120 | 11 | 686986 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2014 | 2017 | ||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
4 | 0.851 | 0.200 | 7 | 140778007 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
8 | 0.827 | 0.160 | 1 | 42927684 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2006 | 2006 | |||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
6 | 0.882 | 0.040 | 20 | 49374931 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.320 | 18 | 55228877 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2014 | |||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2005 | 2006 | |||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.040 | X | 119871933 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 14 | 58444158 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 16 | 1447498 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |