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 | 16 | 10043032 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 100572327 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 10 | 100687890 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 10087779 | intron variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 102123999 | intron variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 12 | 102410115 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
12 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 10 | 103879853 | 3 prime UTR variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 2 | 104896266 | intron variant | A/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 104950211 | intron variant | G/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 104953806 | non coding transcript exon variant | T/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 105127406 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 10521326 | missense variant | C/T | snv | 4.1E-03 | 4.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 4 | 105845273 | intron variant | T/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 105854868 | intron variant | G/C | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 20 | 10633647 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 10652408 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 107326511 | intergenic variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.080 | 12 | 108224853 | missense variant | C/T | snv | 0.27 | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 4 | 108557833 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 108575012 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 108955052 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 109029943 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 |