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 | 0.080 | 9 | 21077717 | synonymous variant | G/A | snv | 0.33 | 0.35 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
4 | 0.882 | 0.200 | 1 | 154408627 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
18 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 1.000 | 0.080 | 1 | 159705143 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 16 | 73034779 | intron variant | G/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 9 | 21078953 | upstream gene variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 5 | 60491989 | non coding transcript exon variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2019 | 2020 | |||||
|
5 | 0.851 | 0.160 | 18 | 58451261 | non coding transcript exon variant | C/A;T | snv | 0.72 | 0.020 | 0.500 | 2 | 2019 | 2020 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 | 0.020 | 1.000 | 2 | 2019 | 2019 | |||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.120 | 15 | 78849442 | intron variant | T/C | snv | 0.45 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 112176338 | 5 prime UTR variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 9 | 6225535 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 11 | 112173503 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 84732025 | intergenic variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 55039995 | missense variant | C/G;T | snv | 1.6E-05; 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 |