| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.740 | 0.400 | 4 | 1996 | 2016 | ||||||||
|
0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 |
|
0.730 | 0.750 | 3 | 2008 | 2016 | ||||||||
|
1.000 | 0.080 | 12 | 111795214 | intron variant | T/C | snv | 0.53 |
|
0.720 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.720 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.720 | 1.000 | 2 | 2013 | 2018 | |||||||||
|
0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv |
|
0.720 | 0.667 | 2 | 2016 | 2018 | |||||||||
|
1.000 | 0.080 | 10 | 113297684 | regulatory region variant | A/G | snv | 5.5E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 |
|
0.710 | 0.667 | 1 | 2015 | 2018 | ||||||||
|
0.882 | 0.120 | 16 | 72995261 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2014 | 2016 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.923 | 52 | 1999 | 2019 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.100 | 1.000 | 20 | 2005 | 2019 | ||||||||
|
0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv |
|
0.100 | 0.857 | 14 | 2009 | 2019 | |||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.100 | 0.929 | 14 | 2000 | 2019 | |||||||
|
0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 |
|
0.100 | 0.846 | 13 | 2011 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.909 | 11 | 2006 | 2018 | |||||||||
|
0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 |
|
0.090 | 0.778 | 9 | 2001 | 2013 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.080 | 0.875 | 8 | 2010 | 2020 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.080 | 0.875 | 8 | 2014 | 2019 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.080 | 0.875 | 8 | 2014 | 2019 | |||||||
|
0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 |
|
0.070 | 0.571 | 7 | 2014 | 2019 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.070 | 1.000 | 7 | 2004 | 2018 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.060 | 0.833 | 6 | 2010 | 2019 | ||||||||
|
0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 |
|
0.060 | 1.000 | 6 | 2008 | 2018 | |||||||
|
0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 |
|
0.060 | 1.000 | 6 | 2006 | 2017 | |||||||
|
0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 |
|
0.060 | 1.000 | 6 | 2015 | 2020 |