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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 2 | 98623468 | 3 prime UTR variant | C/T | snv | 0.18 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 1.000 | 0.040 | 10 | 113120792 | intron variant | A/T | snv | 0.57 | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 38703290 | intron variant | A/G | snv | 0.24 | 0.800 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 0.882 | 0.080 | 15 | 38694167 | intron variant | G/T | snv | 0.25 | 0.800 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 98106018 | intron variant | G/A | snv | 0.39 | 0.800 | 1.000 | 2 | 2014 | 2016 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
5 | 0.827 | 0.200 | 12 | 71151778 | intron variant | T/A | snv | 7.6E-02 | 0.710 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 79351885 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 0.500 | 2 | 2011 | 2015 | ||||
|
3 | 0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 79372205 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
3 | 0.882 | 0.040 | 22 | 38294883 | intron variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 112496 | intergenic variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.040 | 7 | 103545430 | intron variant | C/A | snv | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
12 | 0.732 | 0.160 | 21 | 46606442 | upstream gene variant | G/A | snv | 0.50 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
2 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 3 | 36827948 | 3 prime UTR variant | T/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 60425736 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 2 | 2013 | 2014 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.851 | 0.120 | 2 | 96745212 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.040 | 13 | 42146563 | intron variant | G/A | snv | 0.23 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.040 | 13 | 42160758 | intron variant | T/C | snv | 0.46 | 0.020 | 1.000 | 2 | 2016 | 2019 |