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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.880 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv |
|
0.700 | 1.000 | 3 | 2012 | 2014 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 17 | 67902693 | intron variant | G/A | snv | 0.22 |
|
0.810 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
1.000 | 0.040 | 2 | 29220734 | missense variant | G/T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.840 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 2 | 2005 | 2014 | ||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.730 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.040 | 6 | 41522750 | intron variant | A/G | snv | 0.84 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 |
|
0.810 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.810 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 32552592 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.776 | 0.240 | 5 | 1285859 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.882 | 0.080 | 6 | 41525674 | intron variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 49084427 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2014 | |||||||||
|
0.763 | 0.400 | 15 | 66435117 | missense variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2016 | |||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 15 | 44711547 | start lost | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |