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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 4 | 2008 | 2010 | |||||||
|
0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.240 | 6 | 142358435 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.240 | 7 | 28144083 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.200 | 10 | 129467281 | synonymous variant | C/T | snv | 5.5E-02 | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.742 | 0.200 | 12 | 111535554 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.160 | 19 | 40852719 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 31268790 | 3 prime UTR variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 49830880 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 5 | 75719417 | upstream gene variant | T/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 40804666 | non coding transcript exon variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |