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 | 0.120 | 13 | 61317942 | intergenic variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 135247660 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 11 | 78008566 | intergenic variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 9 | 16915876 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
17 | 0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 21 | 21308069 | intron variant | TA/-;TATA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
17 | 0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 102301953 | upstream gene variant | -/AAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
19 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.708 | 0.280 | 14 | 68559662 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 7 | 27853217 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 247193430 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 1 | 119307920 | intron variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 172072640 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.708 | 0.280 | 17 | 37741642 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 5169477 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 |