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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
3 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 14 | 55136284 | intron variant | T/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 1 | 67255414 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 151924550 | intron variant | TA/-;TATA;TATATA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 73211255 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.040 | 19 | 5851790 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.790 | 0.280 | 6 | 131572419 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 86692112 | intron variant | G/C | snv | 0.19 | 0.14 | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 7 | 142060046 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 10 | 86679248 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.763 | 0.320 | 12 | 122170805 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 86681952 | intron variant | A/G | snv | 0.50 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 165040486 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 16020493 | intron variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 15 | 34797231 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 19 | 5851772 | intron variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.200 | 6 | 32373576 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 3 | 113197356 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |