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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.882 | 0.040 | 20 | 53581801 | synonymous variant | T/A | snv | 0.11 | 8.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 20 | 53577121 | missense variant | G/A | snv | 3.4E-02 | 1.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 16 | 72958864 | missense variant | T/C;G | snv | 1.2E-05; 7.1E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
7 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.040 | 1 | 161040847 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.040 | 1 | 161040282 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
14 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.200 | 1 | 145993449 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 1 | 145992816 | 3 prime UTR variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.724 | 0.320 | 20 | 388261 | missense variant | A/G;T | snv | 0.18; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
12 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 |