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 | 6 | 51967696 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 2 | 182359400 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
1 | 16 | 30925422 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 5 | 173950633 | intron variant | T/A;C | snv | 0.23 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 13 | 110307296 | 5 prime UTR variant | A/C | snv | 0.63 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 5 | 132373185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 5 | 75742606 | intergenic variant | T/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 140848521 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 81937217 | intergenic variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 19831845 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 100028412 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 18 | 33581462 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 19508931 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 181081388 | intron variant | A/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 72256200 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 24907673 | intron variant | A/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 27207660 | downstream gene variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 10787163 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 28036410 | missense variant | T/C | snv | 0.31 | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 16 | 49734135 | intron variant | C/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 22571195 | missense variant | A/G | snv | 0.18 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 57757519 | 5 prime UTR variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 4130519 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 60630968 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 96381261 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |