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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.900 | 0.929 | 14 | 2009 | 2019 | |||||
|
2 | 1.000 | 0.080 | 7 | 116546187 | intron variant | A/G | snv | 0.53 | 0.870 | 0.875 | 8 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 154841877 | intron variant | C/T | snv | 0.28 | 0.870 | 1.000 | 7 | 2010 | 2015 | ||||
|
3 | 0.882 | 0.120 | 16 | 72995261 | intron variant | T/A;C | snv | 0.870 | 0.857 | 7 | 2009 | 2019 | |||||
|
1 | 1.000 | 0.080 | 10 | 103539854 | intron variant | T/C | snv | 0.27 | 0.740 | 0.800 | 5 | 2016 | 2019 | ||||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.710 | 1.000 | 4 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 103720629 | intron variant | T/A | snv | 0.11 | 0.700 | 1.000 | 4 | 2017 | 2018 | ||||
|
8 | 0.851 | 0.080 | 12 | 114357638 | intron variant | G/A | snv | 0.77 | 0.730 | 1.000 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 94951177 | intron variant | C/A | snv | 0.34 | 0.810 | 1.000 | 3 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 73661450 | intron variant | G/A | snv | 0.68 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 178546938 | intron variant | A/G | snv | 0.23 | 0.22 | 0.700 | 1.000 | 3 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 65057097 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 110631977 | intron variant | T/G | snv | 0.62 | 0.720 | 1.000 | 3 | 2016 | 2019 | ||||
|
9 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
2 | 0.925 | 0.120 | 12 | 111260653 | intron variant | G/A | snv | 0.36 | 0.030 | 1.000 | 3 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 73359833 | intron variant | A/G | snv | 0.21 | 0.820 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 170224684 | intron variant | G/C | snv | 7.3E-02 | 0.700 | 1.000 | 3 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 148016386 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 10 | 110816937 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 203057086 | intron variant | T/G | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.020 | 1.000 | 2 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 122843353 | intron variant | C/A | snv | 0.81 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 64214130 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 149225477 | intron variant | A/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2017 |