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 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 3 | 71450250 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 41195623 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 2 | 102370999 | intron variant | T/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 32636021 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.882 | 0.200 | 9 | 6197392 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 6 | 90246690 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.710 | 0.500 | 1 | 2010 | 2019 | |||
|
3 | 1.000 | 0.120 | 19 | 1104079 | synonymous variant | G/A;C | snv | 0.22; 1.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 16 | 11226805 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.160 | 6 | 32619436 | regulatory region variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.807 | 0.280 | 17 | 4632019 | missense variant | G/A | snv | 2.7E-02 | 1.7E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.240 | 10 | 9016708 | intergenic variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 6 | 31354420 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.200 | 12 | 56055651 | regulatory region variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.776 | 0.280 | 11 | 61783884 | missense variant | T/A;C;G | snv | 0.38 | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 |