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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.900 | 10 | 2002 | 2016 | |||||||||
|
0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.160 | 17 | 61849946 | intron variant | A/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2016 | |||||||||
|
0.742 | 0.240 | 6 | 33208047 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv |
|
0.020 | 1.000 | 2 | 2015 | 2015 | |||||||||
|
0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 17 | 12019847 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.786 | 14 | 2004 | 2019 | |||||||
|
0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 |
|
0.050 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 |
|
0.720 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 |
|
0.720 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 |
|
0.020 | < 0.001 | 2 | 2014 | 2017 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 0.500 | 2 | 2011 | 2018 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 0.500 | 2 | 2005 | 2013 | |||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 17 | 61685986 | missense variant | A/G | snv | 0.60 | 0.61 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.882 | 0.080 | 15 | 25032641 | non coding transcript exon variant | A/G | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 5 | 119393693 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2013 | 2013 |