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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 0.920 | 25 | 2006 | 2018 | ||||
|
6 | 0.827 | 0.080 | 1 | 43338646 | missense variant | C/G;T | snv | 8.0E-06; 8.0E-05 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
5 | 0.851 | 0.080 | 9 | 5089726 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 19 | 53804069 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 19 | 40458157 | stop gained | G/A;T | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 19 | 11105220 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 8 | 60853189 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 19 | 41869159 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 | 0.020 | 1.000 | 2 | 2004 | 2013 | |||
|
2 | 1.000 | 0.040 | 19 | 53804069 | frameshift variant | -/AG | ins | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 |