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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 5 | 7892815 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 1998 | 1999 | |||||||||
|
1.000 | 0.200 | 5 | 7873409 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 1998 | 1999 | ||||||||
|
1.000 | 0.200 | 5 | 7896862 | splice region variant | GAGA/- | delins | 5.6E-05 |
|
0.700 | 1.000 | 2 | 1998 | 2015 | ||||||||
|
5 | 7855636 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.200 | 5 | 7891405 | missense variant | C/T | snv | 7.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 5 | 7892735 | stop gained | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.100 | 0.895 | 19 | 2000 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.100 | 0.889 | 18 | 2000 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.100 | 0.846 | 13 | 1999 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.100 | 0.900 | 10 | 2003 | 2018 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.070 | 0.714 | 7 | 2008 | 2016 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.070 | 0.714 | 7 | 2008 | 2016 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.060 | 0.667 | 6 | 2014 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.050 | 1.000 | 5 | 2003 | 2015 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 0.750 | 4 | 2002 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2006 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2007 | 2016 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 1.000 | 4 | 2005 | 2019 | |||||||
|
0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 |
|
0.030 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.030 | 1.000 | 3 | 2003 | 2012 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.030 | 1.000 | 3 | 2014 | 2018 |