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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 15 | 51296650 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
6 | 0.851 | 0.120 | 15 | 92443898 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 21 | 36071595 | intron variant | T/C | snv | 0.74 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 189638432 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.280 | 7 | 98187015 | intron variant | C/T | snv | 0.41 | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 15 | 98956205 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 8 | 9549072 | intergenic variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 3 | 189527804 | intergenic variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 8 | 9545693 | regulatory region variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 112819077 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.100 | 0.941 | 34 | 2005 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 0.941 | 34 | 2005 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.100 | 0.941 | 34 | 2005 | 2020 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 20 | 2006 | 2019 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 0.950 | 20 | 2006 | 2019 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 20 | 2006 | 2019 | |||||
|
57 | 0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 | 0.080 | 1.000 | 8 | 2007 | 2016 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.070 | 1.000 | 7 | 2012 | 2020 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2006 | 2019 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 |