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 | 1 | 157677736 | 3 prime UTR variant | A/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.320 | 1 | 157698600 | missense variant | T/C;G | snv | 0.45 | 0.51 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 1.000 | 0.120 | 1 | 157677999 | 3 prime UTR variant | C/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
5 | 0.827 | 0.200 | 3 | 188877884 | 3 prime UTR variant | G/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 16 | 31365528 | intron variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.280 | 2 | 54248777 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 12 | 95658750 | 3 prime UTR variant | C/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 153179546 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 5887999 | missense variant | G/C;T | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 14 | 51968341 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 3 | 188885163 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 16 | 31332448 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.716 | 0.360 | 15 | 51210647 | 3 prime UTR variant | A/C | snv | 0.67 | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 1 | 157678308 | 3 prime UTR variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 11 | 118657756 | 3 prime UTR variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.200 | 15 | 81308981 | 3 prime UTR variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.360 | 4 | 87983190 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 43339245 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.280 | 12 | 102402744 | intron variant | G/C;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 |