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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 8 | 127649850 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.120 | 5 | 143438741 | upstream gene variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.827 | 0.120 | 6 | 1339954 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 21 | 42317828 | upstream gene variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.750 | 4 | 2008 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 4 | 88131886 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
20 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 10 | 88981502 | intron variant | T/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.200 | 2 | 54252062 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 54269620 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.807 | 0.160 | 2 | 54253232 | 3 prime UTR variant | C/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.120 | 4 | 2915035 | missense variant | C/G;T | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
60 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
2 | 0.925 | 0.080 | 4 | 99307788 | 3 prime UTR variant | T/C | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 99344800 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.776 | 0.240 | 3 | 186849018 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
12 | 0.776 | 0.120 | 1 | 202952912 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.776 | 0.120 | 1 | 202945228 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.724 | 0.400 | 6 | 32182519 | intron variant | C/A | snv | 0.12 | 0.12 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
75 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2008 | 2014 |