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 | 0.925 | 0.120 | 2 | 230250739 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 16 | 11105821 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 21 | 42416281 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 191109709 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.120 | 17 | 47497840 | intergenic variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 35875125 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 3 | 141422126 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 71481195 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 3 | 143707136 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 18 | 50997791 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 8 | 128252343 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 11 | 118854185 | intergenic variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.830 | 0.750 | 4 | 2010 | 2017 | |||||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 50268304 | intron variant | T/C | snv | 6.1E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 13 | 49611068 | intergenic variant | A/G | snv | 7.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 13 | 92711507 | intron variant | G/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 13 | 92679633 | intron variant | G/A | snv | 0.39 | 0.820 | 1.000 | 3 | 2009 | 2013 | ||||
|
10 | 0.807 | 0.200 | 9 | 34743684 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.200 | 11 | 68682735 | upstream gene variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.440 | 10 | 6348488 | intron variant | G/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 32722224 | downstream gene variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 |