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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.100 | 0.778 | 18 | 2002 | 2013 | |||||
|
4 | 0.851 | 0.120 | 9 | 123762933 | intron variant | A/G | snv | 0.44 | 0.900 | 0.833 | 12 | 2011 | 2019 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.100 | 0.750 | 12 | 2009 | 2018 | ||||
|
8 | 0.790 | 0.200 | 2 | 48751020 | intron variant | A/G | snv | 0.15 | 0.900 | 0.818 | 11 | 2011 | 2019 | ||||
|
6 | 0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 | 0.890 | 0.800 | 10 | 2011 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.090 | 0.444 | 9 | 2007 | 2017 | |||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.060 | 1.000 | 6 | 2001 | 2016 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.050 | 0.600 | 5 | 2015 | 2019 | |||||
|
6 | 0.851 | 0.200 | 9 | 123684499 | intron variant | G/A | snv | 5.7E-02 | 0.830 | 1.000 | 4 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.200 | 9 | 123787676 | intron variant | T/G | snv | 6.9E-02 | 0.730 | 1.000 | 4 | 2011 | 2018 | ||||
|
5 | 0.851 | 0.200 | 2 | 43494369 | intron variant | C/T | snv | 0.61 | 0.820 | 0.750 | 4 | 2011 | 2019 | ||||
|
7 | 0.851 | 0.200 | 19 | 7166098 | intron variant | A/G;T | snv | 0.830 | 0.500 | 4 | 2011 | 2020 | |||||
|
11 | 0.882 | 0.200 | 17 | 7634474 | downstream gene variant | T/C | snv | 0.55 | 0.040 | 0.750 | 4 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 56769532 | intron variant | C/G;T | snv | 0.040 | 0.250 | 4 | 2006 | 2015 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 0.667 | 3 | 2015 | 2019 | |||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.030 | 0.667 | 3 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.160 | 10 | 113127963 | intron variant | T/C | snv | 0.16 | 0.030 | 0.333 | 3 | 2009 | 2013 | ||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2014 | 2015 | |||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2008 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
9 | 0.807 | 0.320 | 4 | 186555751 | upstream gene variant | T/C | snv | 0.57 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2012 | 2019 | |||||
|
6 | 0.827 | 0.280 | 9 | 94886305 | intron variant | G/A | snv | 0.31 | 0.720 | 1.000 | 3 | 2012 | 2015 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
8 | 0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 | 0.710 | 1.000 | 2 | 2015 | 2015 |