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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 17 | 42316899 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 42329612 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 2014 | 2017 | |||||
|
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 | ||||||
|
4 | 0.882 | 14 | 105647030 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 9 | 129894985 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.160 | 16 | 85985910 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.724 | 0.240 | 9 | 136369144 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 1 | 67203951 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.040 | 6 | 137682685 | intron variant | G/C;T | snv | 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 | ||||||
|
14 | 0.724 | 0.240 | 10 | 99538694 | downstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 2 | 162516642 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.827 | 0.080 | 9 | 97787746 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 1 | 156815825 | 5 prime UTR variant | G/A;T | snv | 0.67; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 3 | 106229671 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 0.925 | 0.120 | 17 | 42329448 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 7 | 100698285 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
14 | 0.724 | 0.240 | 20 | 63637985 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | X | 136583619 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 5 | 103342219 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 5 | 96888176 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 1 | 206760172 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |