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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 22 | 30614430 | missense variant | G/A | snv | 7.1E-04 | 3.1E-04 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 17 | 80265733 | intron variant | T/C | snv | 0.53 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
23 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.100 | 0.914 | 35 | 2011 | 2020 | ||||
|
2 | 0.882 | 0.080 | 17 | 80376310 | missense variant | G/A | snv | 1.0E-02 | 7.9E-03 | 0.040 | 0.750 | 4 | 2012 | 2019 | |||
|
2 | 0.925 | 0.080 | 21 | 22419777 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
110 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.742 | 0.360 | 20 | 46119460 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 18 | 3457498 | missense variant | T/C | snv | 2.6E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
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 | 2012 | 2012 | |||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.160 | 5 | 150156062 | upstream gene variant | A/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.752 | 0.280 | 10 | 88941309 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 20 | 46134645 | downstream gene variant | C/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 10 | 88939548 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |