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 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 |
|
0.820 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 41661944 | splice region variant | A/G;T | snv | 0.78 |
|
0.840 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
0.810 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 3 | 1998 | 2019 | ||||||||
|
0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 |
|
0.860 | 0.941 | 8 | 2007 | 2018 | |||||||
|
1.000 | 0.080 | 20 | 45877779 | synonymous variant | G/A | snv | 0.56 | 0.52 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 6 | 39316408 | synonymous variant | A/G | snv | 0.52 | 0.62 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 6 | 39316274 | missense variant | G/T | snv | 0.51 | 0.60 |
|
0.830 | 1.000 | 1 | 2011 | 2019 | |||||||
|
0.716 | 0.360 | 9 | 22029548 | 3 prime UTR variant | T/C | snv | 0.31 | 0.28 |
|
0.810 | 1.000 | 1 | 2007 | 2012 | |||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 11 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 70579486 | missense variant | A/G | snv | 0.18 | 0.22 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.900 | 0.902 | 2 | 1997 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 |
|
0.840 | 1.000 | 4 | 2008 | 2017 | |||||||
|
0.925 | 0.080 | 17 | 7041768 | missense variant | G/C;T | snv | 8.0E-06; 5.4E-02 |
|
0.810 | 1.000 | 1 | 2014 | 2016 | ||||||||
|
1.000 | 0.080 | 3 | 23499566 | intron variant | A/G | snv | 4.2E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
0.850 | 0.857 | 1 | 2004 | 2018 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 21 | 2006 | 2020 | |||||||||
|
0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 |
|
1.000 | 0.977 | 11 | 2007 | 2018 | ||||||||
|
0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 |
|
0.900 | 0.963 | 9 | 2007 | 2017 | ||||||||
|
0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 |
|
0.900 | 0.955 | 8 | 2007 | 2019 | ||||||||
|
0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 |
|
0.900 | 0.914 | 8 | 2007 | 2020 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.900 | 0.958 | 8 | 2007 | 2019 | |||||||||
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
0.900 | 1.000 | 7 | 2008 | 2019 | ||||||||
|
0.851 | 0.120 | 10 | 92705802 | downstream gene variant | C/T | snv | 0.42 |
|
0.900 | 0.941 | 7 | 2007 | 2019 |