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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.020 | 1.000 | 2 | 2017 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.851 | 0.160 | 18 | 58451261 | non coding transcript exon variant | C/A;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.789 | 19 | 2008 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.789 | 19 | 2008 | 2019 | ||||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.100 | 0.727 | 11 | 2010 | 2019 | ||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.850 | 1.000 | 7 | 2012 | 2019 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1995 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.080 | 10 | 113297684 | regulatory region variant | A/G | snv | 5.5E-02 | 0.030 | 0.667 | 3 | 2016 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2019 | ||||
|
6 | 0.827 | 0.200 | 19 | 15187315 | missense variant | G/A;C | snv | 3.2E-04; 4.0E-06 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.080 | 11 | 78074911 | intron variant | T/C | snv | 0.38 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.020 | < 0.001 | 2 | 2016 | 2019 | |||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2005 | 2019 | ||||
|
1 | 7 | 18999982 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 12 | 664290 | upstream gene variant | C/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
4 | 0.925 | 0.120 | 8 | 1906652 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
1 | 8 | 39912430 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 |