| 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 | 0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 1 | 172153461 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 1 | 248897507 | regulatory region variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 1 | 22109953 | regulatory region variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 2 | 11524625 | intron variant | A/C | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 2 | 11540277 | intron variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11166852 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 28110242 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11961997 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.776 | 0.080 | 3 | 169768720 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 3 | 4677552 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 27321573 | intron variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 5306910 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 3 | 27485025 | upstream gene variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 52165349 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 53140760 | intron variant | A/C | snv | 5.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 52893799 | intron variant | C/T | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 53718356 | intron variant | C/T | snv | 5.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 69768723 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 94580015 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 |