Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 0.867 | 15 | 2011 | 2020 | |||||
|
3 | 0.882 | 0.080 | 12 | 2551994 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
14 | 0.776 | 0.280 | 9 | 22119196 | non coding transcript exon variant | T/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.842 | 38 | 2004 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.833 | 36 | 2004 | 2019 | ||||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.964 | 28 | 2008 | 2019 | ||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.810 | 1.000 | 10 | 2010 | 2019 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.060 | 1.000 | 6 | 2006 | 2019 | |||
|
8 | 0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 | 0.820 | 1.000 | 6 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 18365098 | intron variant | A/C;G | snv | 0.11 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 52780240 | non coding transcript exon variant | T/A | snv | 0.44; 3.1E-03; 1.5E-04; 1.0E-05 | 0.42 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||
|
1 | 1.000 | 0.040 | 13 | 42146563 | intron variant | G/A | snv | 0.23 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 13 | 42160758 | intron variant | T/C | snv | 0.46 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 13 | 42134315 | intron variant | A/G | snv | 0.37 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 81500549 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 5 | 138358306 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 121320830 | intergenic variant | A/G | snv | 0.16 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 |