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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 12 | 114763631 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2015 | 2019 | |||||||
|
3 | 14 | 92631994 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 16 | 78191736 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
10 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
5 | 13 | 50132951 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 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 | 63741353 | non coding transcript exon variant | G/A;C;T | snv | 0.69; 3.2E-05 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 13 | 79893100 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 18 | 8801353 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 17 | 81995068 | synonymous variant | C/G;T | snv | 7.2E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 17 | 30883577 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 2 | 156159745 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 16 | 50155018 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 13 | 71073456 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 5 | 33334206 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
1 | 4 | 173660916 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 20 | 6641070 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 76687512 | intron variant | G/A;T | snv | 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 | 2 | 70034525 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 190504195 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 27636685 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 8 | 119583783 | missense variant | A/G;T | snv | 0.96 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 204557932 | 3 prime UTR variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 117018568 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |