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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 16 | 78191736 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 2 | 114574293 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 79143396 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 43515178 | intron variant | A/C;G | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.080 | 15 | 39588621 | missense variant | A/C;G | snv | 4.0E-06; 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 202115530 | non coding transcript exon variant | A/C;G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 2 | 184295785 | intron variant | A/C;G | snv | 4.7E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 131081063 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 1 | 218347653 | intron variant | A/C;G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 170836486 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 12 | 49549339 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 16 | 3153292 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 150531657 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 205708020 | downstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 20 | 50353535 | intergenic variant | A/C;G;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 | |||||||
|
1 | 18 | 40495138 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 186122944 | splice region variant | A/C;T | snv | 0.47; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 11 | 45101435 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 102410115 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 14 | 74350715 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 3 | 158509097 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
11 | 0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 2 | 42016710 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2019 | 2019 |