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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.100 | 0.917 | 12 | 2016 | 2019 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.080 | 0.875 | 8 | 2010 | 2014 | |||||
|
6 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2010 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.040 | 19 | 54178800 | missense variant | G/C | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2015 | 2020 | |||||
|
12 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 0.720 | 0.667 | 3 | 2011 | 2016 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.030 | 0.667 | 3 | 2008 | 2016 | ||||
|
14 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 0.030 | 1.000 | 3 | 2019 | 2019 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 148708086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 35515178 | upstream gene variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2010 | 2015 | |||||
|
4 | 0.851 | 0.080 | 3 | 148717966 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 44002644 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 156137730 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | 3 | 172505830 | 3 prime UTR variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 209687741 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 22 | 18517476 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |