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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 0.955 | 22 | 1997 | 2020 | |||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 1997 | 2018 | |||||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 1997 | 2014 | |||
|
7 | 0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 | 0.060 | 1.000 | 6 | 1997 | 2010 | ||||
|
2 | 0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.100 | 1.000 | 10 | 1998 | 2018 | |||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.090 | 1.000 | 9 | 1998 | 2019 | |||
|
10 | 0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 | 0.080 | 1.000 | 8 | 1998 | 2018 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1998 | 2008 | ||||
|
3 | 0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 1998 | 2003 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 0.750 | 4 | 1998 | 2018 | |||||
|
8 | 0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 1998 | 2017 | |||||
|
6 | 0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 1998 | 2018 | |||||
|
7 | 0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 1998 | 2000 | |||||
|
3 | 0.925 | 0.080 | 21 | 25911833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
7 | 0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 | 0.070 | 0.714 | 7 | 1999 | 2014 | |||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.040 | 0.750 | 4 | 1999 | 2003 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 0.667 | 3 | 1999 | 2016 | |||
|
4 | 0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv | 0.030 | 1.000 | 3 | 1999 | 2010 | |||||
|
6 | 0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv | 0.020 | 1.000 | 2 | 1999 | 1999 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.840 | 25 | 2000 | 2017 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.080 | 0.875 | 8 | 2000 | 2015 |