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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 12 | 47843520 | 3 prime UTR variant | A/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.160 | X | 12871850 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 21 | 33324402 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 9 | 32526235 | upstream gene variant | G/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 76174062 | non coding transcript exon variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.200 | 4 | 186068179 | upstream gene variant | T/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 159713626 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.120 | 9 | 32464137 | intron variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 |