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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 2 | 73628380 | downstream gene variant | G/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 76994030 | downstream gene variant | T/C | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 12297620 | downstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 7 | 77787122 | downstream gene variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 1 | 151982754 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 11 | 48229123 | downstream gene variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 78168337 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 14 | 53964857 | downstream gene variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 6 | 26185972 | downstream gene variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.720 | 1.000 | 5 | 2009 | 2015 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
10 | 0.776 | 0.320 | 22 | 17084145 | upstream gene variant | G/A | snv | 0.84 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 0.925 | 0.080 | 14 | 23370824 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 38645846 | upstream gene variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.080 | 2 | 113209498 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 2 | 203867285 | upstream gene variant | C/T | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 22 | 29065297 | upstream gene variant | G/A | snv | 6.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.776 | 0.480 | 2 | 203866796 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 148443990 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 12 | 120702516 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 16 | 23835433 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |