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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.040 | 13 | 99389484 | downstream gene variant | G/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.040 | 20 | 2239664 | intron variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 3 | 2009 | 2015 | ||||
|
6 | 0.807 | 0.120 | 1 | 17395867 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
4 | 0.851 | 0.040 | 7 | 130900794 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
16 | 0.701 | 0.360 | 9 | 22034720 | non coding transcript exon variant | G/A | snv | 0.46 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.851 | 0.040 | 8 | 100012277 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
5 | 0.851 | 0.040 | 2 | 201350769 | missense variant | C/G | snv | 0.62 | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 8 | 76566304 | intron variant | C/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 2 | 16280877 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||
|
3 | 0.882 | 0.040 | 10 | 8894035 | upstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 76562310 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 31356838 | missense variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 80477556 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 99992792 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 3 | 188374758 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 2 | 201300483 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 3 | 71572518 | non coding transcript exon variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 20 | 2302811 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |