Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 2 | 15947252 | downstream gene variant | G/A | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 4 | 99412110 | downstream gene variant | G/A | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 19 | 7914916 | upstream gene variant | G/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 1 | 114716848 | upstream gene variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 1 | 26410652 | upstream gene variant | G/A | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 12 | 25251670 | upstream gene variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 2 | 69431903 | splice region variant | T/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 6 | 105080213 | 3 prime UTR variant | T/A | snv | 0.52 |
|
0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 8 | 24952575 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 1 | 26429683 | 3 prime UTR variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.200 | 12 | 25205894 | 3 prime UTR variant | T/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 4 | 89726127 | 3 prime UTR variant | G/A | snv | 4.7E-02 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 3 | 14145845 | 3 prime UTR variant | G/C | snv | 0.25 | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.200 | 8 | 24951554 | 3 prime UTR variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2014 | 2014 |