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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 12 | 49950079 | upstream gene variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.080 | 16 | 23834475 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.807 | 0.280 | 6 | 52803889 | upstream gene variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 19 | 29914778 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 6 | 149115402 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 218838575 | upstream gene variant | A/C | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.160 | 22 | 35396981 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 226335330 | upstream gene variant | T/G | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 19 | 38106538 | splice region variant | C/T | snv | 9.1E-05 | 3.0E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.827 | 0.160 | 22 | 36314138 | splice region variant | T/C | snv | 0.57 | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 7 | 150824966 | splice region variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
5 | 1.000 | 0.080 | 11 | 61801834 | 3 prime UTR variant | C/A;G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 243306367 | 3 prime UTR variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.240 | 3 | 49359318 | 3 prime UTR variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 |