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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 71336479 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.040 | 15 | 66426943 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 15 | 66404397 | intron variant | A/C;G | snv | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 15 | 66469947 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.030 | 0.667 | 3 | 2010 | 2014 | |||
|
5 | 0.882 | 0.080 | 9 | 84668501 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
7 | 0.851 | 0.080 | 6 | 88137716 | downstream gene variant | T/C | snv | 0.51 | 0.020 | 1.000 | 2 | 2009 | 2019 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.080 | 11 | 2166716 | missense variant | G/A;T | snv | 6.9E-06 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 6 | 116296236 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 10 | 119551536 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.925 | 0.080 | 11 | 13297040 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.925 | 0.080 | 12 | 56452706 | non coding transcript exon variant | C/T | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 12 | 2207029 | intron variant | T/A;C | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 9 | 128833128 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 10 | 67913178 | intron variant | T/C | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 10 | 67920067 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.925 | 0.080 | 11 | 13369313 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 4 | 55453183 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | 9 | 4860267 | missense variant | C/T | snv | 2.6E-03 | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.925 | 0.080 | 11 | 13324747 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 9 | 84674365 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 |