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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.060 | 1.000 | 6 | 2010 | 2017 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.050 | 1.000 | 5 | 2011 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342641 | intron variant | G/A | snv | 0.18 | 0.830 | 0.800 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 0.040 | 0.250 | 4 | 2015 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.040 | 1.000 | 4 | 2018 | 2020 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 0.750 | 4 | 2015 | 2020 | ||||
|
18 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 0.040 | 1.000 | 4 | 2012 | 2015 | |||
|
1 | 1.000 | 0.040 | 8 | 130284521 | intron variant | A/C | snv | 0.29 | 0.740 | 1.000 | 4 | 2015 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.030 | 1.000 | 3 | 2016 | 2019 | |||||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 41302340 | intron variant | C/T | snv | 1.0E-01 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2019 | 2020 | |||||
|
3 | 0.925 | 0.040 | 4 | 38799664 | intron variant | A/G | snv | 0.36 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 11034982 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.040 | 8 | 130234967 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.120 | 19 | 35281996 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.320 | 2 | 102100877 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 11 | 14888727 | intron variant | T/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 103949490 | intron variant | G/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 103950058 | intron variant | A/G | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 183579857 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 159029494 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342070 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 16 | 85917080 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 |