| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 26 | 1991 | 2019 | |||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 15 | 2009 | 2020 | |||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.900 | 1.000 | 13 | 2011 | 2019 | ||||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 1997 | 2018 | |||||||||
|
0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv |
|
0.100 | 1.000 | 12 | 2003 | 2020 | |||||||||
|
0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 |
|
0.900 | 1.000 | 11 | 2011 | 2019 | ||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 11 | 2009 | 2019 | |||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.100 | 1.000 | 10 | 1998 | 2018 | |||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.900 | 1.000 | 10 | 2011 | 2019 | ||||||||
|
0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 |
|
0.090 | 1.000 | 9 | 1998 | 2019 | |||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.790 | 1.000 | 9 | 2001 | 2019 | |||||||||
|
0.827 | 0.120 | 11 | 1761364 | missense variant | G/A | snv | 7.0E-02 | 6.2E-02 |
|
0.080 | 1.000 | 8 | 2003 | 2018 | |||||||
|
0.763 | 0.160 | 21 | 25897627 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.080 | 1.000 | 8 | 1998 | 2018 | ||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 |
|
0.080 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 |
|
0.080 | 1.000 | 8 | 2002 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.080 | 1.000 | 8 | 2003 | 2019 | |||||||||
|
0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 |
|
0.080 | 1.000 | 8 | 2002 | 2014 | |||||||
|
0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 |
|
0.880 | 1.000 | 8 | 2009 | 2019 | |||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.070 | 1.000 | 7 | 2007 | 2018 | ||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.070 | 1.000 | 7 | 2000 | 2014 | |||||||||
|
0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2008 | ||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.060 | 1.000 | 6 | 2007 | 2019 | |||||||
|
0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1997 | 2014 |