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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 12 | 95318100 | intron variant | A/C | snv | 0.37 | 0.850 | 1.000 | 5 | 2012 | 2017 | ||||
|
4 | 1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 22123994 | intron variant | C/T | snv | 0.13 | 0.820 | 1.000 | 3 | 2013 | 2020 | ||||
|
2 | 0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 67637543 | intron variant | C/T | snv | 0.71 | 0.820 | 1.000 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 22115106 | intron variant | C/A | snv | 0.15 | 0.820 | 1.000 | 2 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 11581409 | intron variant | T/A;G | snv | 0.710 | 0.500 | 2 | 2017 | 2019 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 19785357 | intron variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 63133372 | intron variant | T/A;C | snv | 0.710 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 19 | 48427965 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 95181055 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 30230805 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 95237500 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 19 | 13221196 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 10 | 94843657 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 151726887 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 31202319 | intron variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 66496567 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 7 | 55094643 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 115274600 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |