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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.827 | 0.200 | 2 | 238246412 | missense variant | C/T | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.030 | 1.000 | 3 | 2004 | 2008 | |||
|
2 | 3 | 43189231 | intergenic variant | C/G | snv | 5.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.040 | 3 | 178623794 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.882 | 0.040 | 3 | 52821213 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 3 | 170445686 | intron variant | G/A | snv | 0.85 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
9 | 0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 3 | 25070680 | intron variant | C/T | snv | 0.75 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.040 | 4 | 179734472 | intergenic variant | C/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 4 | 163329645 | intron variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.040 | 5 | 59383658 | intron variant | A/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 5 | 4720472 | intron variant | G/C | snv | 0.32 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.851 | 0.080 | 6 | 165741969 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.040 | 6 | 56085576 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.040 | 6 | 89022382 | regulatory region variant | T/C | snv | 0.21 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 6 | 89018502 | intergenic variant | T/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.200 | 6 | 28289600 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |