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 | 3 | 150729892 | downstream gene variant | G/A | snv | 0.98 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 129895558 | 5 prime UTR variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.040 | 5 | 72848178 | non coding transcript exon variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 5 | 1074936 | intron variant | A/G | snv | 0.91 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 19 | 10577081 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 25258485 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 74219855 | intergenic variant | C/T | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 12 | 54138553 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 128244867 | intron variant | C/T | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 9 | 108150874 | regulatory region variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 219914705 | 3 prime UTR variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.080 | 19 | 5844526 | missense variant | A/G | snv | 0.84 | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1 | 203689654 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 171812145 | upstream gene variant | T/G | snv | 0.83 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 1 | 203683316 | synonymous variant | A/G | snv | 0.88 | 0.83 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1 | 203684957 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 10 | 99496351 | intergenic variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 19 | 54295230 | upstream gene variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 58287055 | intron variant | -/TT | ins | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 72430085 | intergenic variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 151746763 | intron variant | G/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 26547477 | upstream gene variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.080 | 17 | 39475835 | intron variant | A/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 |