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 | 0.925 | 0.080 | 13 | 28036046 | splice region variant | A/G | snv | 0.71 | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 16 | 13935425 | missense variant | T/C | snv | 3.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.851 | 0.080 | 15 | 69269179 | missense variant | G/A | snv | 0.75 | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.200 | 13 | 32339456 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 7 | 116677823 | intron variant | G/A | snv | 0.87 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.080 | 5 | 44662413 | upstream gene variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 6 | 106327811 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 17 | 43093454 | missense variant | C/A;T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 18 | 26757460 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 39708528 | missense variant | C/T | snv | 5.4E-04 | 1.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 17 | 61784427 | splice region variant | A/C;G | snv | 4.0E-06; 2.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.080 | 17 | 39706998 | missense variant | G/A;C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.200 | 2 | 47806280 | frameshift variant | GTACATTATTTTC/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |