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 | 1.000 | 0.040 | 1 | 90724174 | non coding transcript exon variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 41366625 | intron variant | T/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 72050604 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 68807756 | intron variant | A/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 216659647 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 95782279 | non coding transcript exon variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 31631214 | intron variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 31631487 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 31642946 | intron variant | C/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183313440 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 31628660 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 31660342 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 20492166 | regulatory region variant | G/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 22099149 | 3 prime UTR variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 90727492 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 90787306 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 109343749 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 216656786 | intron variant | T/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 72284817 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 72371807 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 1 | 41377768 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 41385743 | downstream gene variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 43939891 | non coding transcript exon variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 68818640 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 153953602 | missense variant | T/C | snv | 0.32 | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 |