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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv |
|
0.900 | 0.953 | 28 | 2006 | 2020 | |||||||||
|
0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 |
|
1.000 | 0.973 | 13 | 2007 | 2019 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
0.900 | 0.966 | 6 | 2007 | 2019 | |||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.900 | 0.958 | 5 | 2007 | 2019 | |||||||||
|
1.000 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 |
|
0.820 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 |
|
0.900 | 0.906 | 4 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
0.810 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv |
|
0.810 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 3 | 2017 | 2018 | |||||||||
|
0.882 | 0.120 | 2 | 164645339 | intergenic variant | A/C;G;T | snv |
|
0.810 | 1.000 | 3 | 2011 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 188022735 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 3 | 2014 | 2018 | |||||||||
|
0.925 | 0.120 | 4 | 1316113 | intron variant | C/G;T | snv |
|
0.840 | 1.000 | 3 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 9 | 136357696 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
1.000 | 0.080 | 9 | 79337213 | intergenic variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.925 | 0.160 | 12 | 65781114 | intron variant | G/C;T | snv |
|
0.810 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
0.900 | 0.889 | 2 | 2008 | 2019 | |||||||||
|
1.000 | 0.080 | 1 | 39370145 | missense variant | A/G;T | snv | 0.19; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.925 | 0.120 | 5 | 75707853 | missense variant | T/A;C | snv | 4.5E-06; 0.47 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 160345738 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.882 | 0.160 | 16 | 75213347 | intergenic variant | T/C;G | snv |
|
0.810 | 1.000 | 2 | 2012 | 2018 | |||||||||
|
0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv |
|
0.840 | 0.889 | 2 | 2010 | 2018 | |||||||||
|
1.000 | 0.080 | 4 | 103067742 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2011 | 2018 |