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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.870 | 1.000 | 9 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 96758990 | intron variant | T/G | snv | 0.72 | 0.760 | 1.000 | 7 | 2010 | 2018 | ||||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.730 | 1.000 | 4 | 2013 | 2018 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.120 | 14 | 88022477 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 96762191 | 3 prime UTR variant | T/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2016 | 2018 | ||||
|
13 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.710 | 1.000 | 3 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.040 | 4 | 80028675 | intron variant | C/G;T | snv | 0.820 | 1.000 | 3 | 2010 | 2016 | |||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 47691470 | upstream gene variant | T/C | snv | 0.54 | 0.820 | 1.000 | 3 | 2011 | 2019 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.020 | < 0.001 | 2 | 2013 | 2014 | ||||
|
2 | 1.000 | 0.040 | 5 | 40490688 | intron variant | G/A | snv | 0.56 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
5 | 0.827 | 0.120 | 10 | 99518968 | intergenic variant | C/T | snv | 0.26 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.120 | 12 | 6393576 | upstream gene variant | G/A | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 35881341 | downstream gene variant | G/A | snv | 0.20 | 0.710 | 0.500 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.120 | 1 | 113870045 | non coding transcript exon variant | G/A | snv | 0.36 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 45381125 | intron variant | A/G | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
7 | 0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 0.925 | 0.040 | 2 | 112782600 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 21 | 39093252 | intergenic variant | G/A | snv | 0.46 | 0.810 | 1.000 | 2 | 2010 | 2010 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 102047167 | intron variant | T/C;G | snv | 0.810 | 1.000 | 2 | 2010 | 2016 |