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 | 5 | 94600780 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 51148434 | intergenic variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 23153770 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 4922962 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 118394924 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 55162885 | downstream gene variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 23193334 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 34366284 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 23133679 | intergenic variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 49277423 | intron variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 142802725 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 11 | 23211338 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 4982458 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 4979496 | intron variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 49370810 | non coding transcript exon variant | T/C | snv | 0.11 | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 216433482 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 23174695 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 4941276 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 4973520 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 21 | 34469442 | intron variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 14 | 51225981 | regulatory region variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 51244143 | non coding transcript exon variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 4840065 | non coding transcript exon variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 16658827 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 142798609 | upstream gene variant | C/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2017 | 2017 |