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 | 17 | 42322445 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2014 | 2017 | |||||
|
1 | 1.000 | 17 | 42322409 | missense variant | C/G | snv | 0.800 | 1.000 | 2 | 2014 | 2017 | ||||||
|
1 | 1.000 | 17 | 42333690 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42329430 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42322395 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42331524 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42329431 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 17 | 42317219 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 0.925 | 0.120 | 17 | 42329612 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 42329448 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.120 | 17 | 42316899 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
3 | 0.925 | 0.120 | 17 | 42339328 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 2 | 190398199 | intergenic variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 14 | 105647030 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 1 | 107832253 | intron variant | G/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 3 | 192909627 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 9 | 124236874 | intergenic variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 5 | 132391341 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 8 | 128518940 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 11 | 64350711 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 19 | 49693735 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 12 | 103493699 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 9 | 120832525 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 17 | 42145640 | intron variant | C/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 2 | 162516642 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |