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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.100 | 0.789 | 19 | 2002 | 2019 | |||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.100 | 0.833 | 18 | 2001 | 2017 | ||||
|
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 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.100 | 0.727 | 11 | 2004 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.900 | 10 | 2003 | 2019 | |||
|
6 | 0.827 | 0.200 | 2 | 43411699 | intron variant | A/C | snv | 0.14 | 0.890 | 0.800 | 10 | 2011 | 2019 | ||||
|
14 | 0.724 | 0.160 | 2 | 48963902 | missense variant | C/G;T | snv | 4.0E-06; 0.55 | 0.100 | 0.700 | 10 | 2001 | 2017 | ||||
|
17 | 0.708 | 0.240 | 2 | 48962782 | missense variant | C/T | snv | 0.57 | 0.57 | 0.090 | 0.667 | 9 | 2001 | 2017 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.090 | 0.444 | 9 | 2007 | 2017 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.080 | 0.875 | 8 | 2001 | 2016 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.060 | 1.000 | 6 | 2001 | 2016 | |||||
|
27 | 0.658 | 0.400 | 17 | 7633209 | missense variant | G/A | snv | 8.9E-02 | 8.1E-02 | 0.060 | 0.833 | 6 | 2004 | 2019 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.060 | 1.000 | 6 | 2010 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.050 | 0.600 | 5 | 2015 | 2019 | |||||
|
4 | 0.851 | 0.160 | 2 | 48694236 | missense variant | T/C | snv | 0.61 | 0.51 | 0.050 | 1.000 | 5 | 2012 | 2019 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.050 | 1.000 | 5 | 2012 | 2019 | |||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.050 | 0.600 | 5 | 2015 | 2019 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 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 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.040 | 0.750 | 4 | 2013 | 2019 | |||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2010 | 2012 |