| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.040 | 1 | 165717968 | TF binding site variant | G/A | snv | 0.85 |
|
0.810 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
0.827 | 0.080 | 9 | 22019130 | intron variant | A/G | snv | 0.30 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 |
|
0.800 | 1.000 | 11 | 1998 | 2019 | |||||||
|
0.925 | 0.040 | 2 | 45419685 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 |
|
0.750 | 1.000 | 6 | 2007 | 2019 | ||||||||
|
0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 |
|
0.730 | 1.000 | 4 | 2007 | 2017 | |||||||
|
0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 |
|
0.710 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.710 | 1.000 | 2 | 2011 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 171636617 | stop gained | T/A | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 117963766 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.040 | 8 | 51974981 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 15 | 73962780 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.040 | 7 | 116511284 | downstream gene variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 107266388 | intron variant | C/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 165745179 | intron variant | T/C | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 9 | 22053688 | intron variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.040 | 11 | 16987058 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 120469674 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 7 | 22253498 | intron variant | A/C | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 6 | 597203 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 150341555 | non coding transcript exon variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 10127773 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 126610831 | intron variant | G/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 15 | 73939098 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 |