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 | 0.040 | 19 | 44899959 | intron variant | C/G;T | snv | 2.9E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.710 | 1.000 | 1 | 2017 | 2019 | |||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 |
|
0.710 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.080 | 1.000 | 8 | 2006 | 2020 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.070 | 1.000 | 7 | 2006 | 2020 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.040 | 1.000 | 4 | 2007 | 2019 | |||||||
|
0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 |
|
0.040 | 1.000 | 4 | 2008 | 2019 | |||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.040 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 |
|
0.020 | 1.000 | 2 | 2002 | 2013 | |||||||
|
0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | ||||||||
|
0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 |
|
0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 1 | 45332409 | missense variant | A/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 3 | 165837337 | synonymous variant | C/T | snv | 5.6E-02 | 5.6E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 6 | 3010156 | missense variant | C/T | snv | 0.79 | 0.84 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 11 | 27736075 | intron variant | A/G | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |