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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.160 | 9 | 21971187 | stop gained | G/A;C | snv | 4.6E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.790 | 0.120 | 14 | 104769221 | upstream gene variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 17 | 34318930 | upstream gene variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 9 | 21971189 | missense variant | G/A;C;T | snv | 9.1E-05; 2.3E-05; 9.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 9 | 21974658 | missense variant | G/A;C | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 9 | 21974745 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 |