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 | 1.000 | 0.040 | 1 | 22159378 | downstream gene variant | T/G | snv | 0.32 | 0.750 | 1.000 | 6 | 2010 | 2020 | ||||
|
1 | 1.000 | 0.040 | 2 | 112771606 | downstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 17 | 3126260 | downstream gene variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 22113027 | downstream gene variant | T/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2013 | 2020 | |||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 25833490 | upstream gene variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 45888078 | upstream gene variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 22641634 | upstream gene variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.160 | 10 | 102435445 | upstream gene variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 7 | 142800425 | upstream gene variant | T/C | snv | 0.56 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 45885442 | upstream gene variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 6971563 | upstream gene variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 65497011 | upstream gene variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 6973682 | upstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 112805784 | TF binding site variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 11587381 | splice acceptor variant | G/A | snv | 0.53 | 0.61 | 0.840 | 1.000 | 4 | 2012 | 2015 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.060 | 0.833 | 6 | 2007 | 2016 |