| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.850 | 1.000 | 1 | 2008 | 2017 | |||||||
|
0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.200 | 22 | 21568615 | intron variant | G/T | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 15 | 90629669 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.200 | 16 | 28506388 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 |
|
0.710 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.827 | 0.120 | 11 | 64382898 | intergenic variant | T/C | snv | 0.77 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.827 | 0.120 | 5 | 142133639 | intron variant | A/T | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.827 | 0.120 | 16 | 23853269 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2012 | 2017 |