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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | < 0.001 | 2 | 2006 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 2 | 207517878 | intron variant | A/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 7 | 155070911 | synonymous variant | T/A;G | snv | 0.26; 1.2E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 2 | 207603273 | 3 prime UTR variant | A/G | snv | 0.84 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 5 | 102434022 | intron variant | C/T | snv | 0.64 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 1 | 11800214 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 5 | 102444775 | intron variant | T/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 12 | 121162449 | missense variant | GT/AC | mnv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
9 | 0.776 | 0.200 | 21 | 46599326 | 3 prime UTR variant | G/A | snv | 0.16; 2.4E-05 | 0.21 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 0.333 | 3 | 2007 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 135446760 | stop gained | T/A;C | snv | 0.51 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.020 | 0.500 | 2 | 2001 | 2005 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 0.500 | 2 | 2008 | 2013 | |||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2019 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.070 | 0.714 | 7 | 2002 | 2019 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.070 | 0.714 | 7 | 2006 | 2018 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.090 | 0.778 | 9 | 2004 | 2017 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.800 | 10 | 2005 | 2017 |