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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 8 | 142979538 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
4 | 1.000 | 0.040 | 11 | 47654618 | downstream gene variant | A/G | snv | 0.45 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 8 | 141386381 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||||
|
4 | 18 | 721563 | downstream gene variant | A/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 1 | 232393998 | downstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 76416170 | downstream gene variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 15 | 74918801 | downstream gene variant | -/CA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 92708928 | downstream gene variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 69437232 | downstream gene variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 103541414 | downstream gene variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 2452283 | downstream gene variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 1.000 | 0.080 | 12 | 111835695 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 4 | 155738667 | downstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 188865413 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 7 | 150521218 | downstream gene variant | A/G | snv | 0.23 | 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 | 2019 | 2019 | ||||
|
1 | 2 | 230405450 | downstream gene variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 0.776 | 0.320 | 3 | 169763483 | downstream gene variant | C/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 6576133 | downstream gene variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 113675066 | downstream gene variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 137450919 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 21 | 43409715 | downstream gene variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 5 | 159977464 | downstream gene variant | A/G | snv | 3.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |