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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2008 | 2012 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.040 | 1.000 | 4 | 2008 | 2015 | ||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
5 | 0.851 | 0.160 | 17 | 39756124 | downstream gene variant | C/T | snv | 0.37 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
2 | 1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
12 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 19 | 33240645 | regulatory region variant | G/A | snv | 0.22 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 0.667 | 3 | 2014 | 2017 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 166960059 | upstream gene variant | T/G | snv | 0.57 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 3 | 2012 | 2016 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.820 | 1.000 | 3 | 2006 | 2017 | ||||
|
3 | 0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
6 | 0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
7 | 0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 | 0.800 | 1.000 | 3 | 2008 | 2017 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
10 | 0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 4 | 38323415 | intergenic variant | T/C | snv | 0.15 | 0.710 | 1.000 | 3 | 2014 | 2016 | ||||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.820 | 0.667 | 3 | 2012 | 2017 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 3 | 2012 | 2017 |