| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.100 | 0.955 | 22 | 1997 | 2020 | |||||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 1997 | 2018 | |||||||||
|
0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2014 | |||||||
|
0.790 | 0.120 | 14 | 73173646 | missense variant | T/A | snv | 8.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2010 | ||||||||
|
0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.100 | 1.000 | 10 | 1998 | 2018 | |||||||||
|
0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 |
|
0.090 | 1.000 | 9 | 1998 | 2019 | |||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 1998 | 2018 | ||||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2008 | ||||||||
|
0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2003 | |||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.040 | 0.750 | 4 | 1998 | 2018 | |||||||||
|
0.827 | 0.120 | 17 | 46018629 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 1998 | 2017 | |||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 1998 | 2018 | |||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 1998 | 2000 | |||||||||
|
0.925 | 0.080 | 21 | 25911833 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
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 | |||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.030 | 0.667 | 3 | 1999 | 2016 | |||||||
|
0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv |
|
0.030 | 1.000 | 3 | 1999 | 2010 | |||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
0.020 | 1.000 | 2 | 1999 | 1999 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.840 | 25 | 2000 | 2017 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.080 | 0.875 | 8 | 2000 | 2015 |