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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.716 | 0.440 | 8 | 18400344 | missense variant | T/C | snv | 0.38 | 0.39 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
20 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.240 | 14 | 96311131 | missense variant | G/C | snv | 0.36 | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
15 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.070 | 1.000 | 7 | 2001 | 2013 | |||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 1.000 | 8 | 2007 | 2014 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 0.500 | 2 | 2013 | 2013 | |||
|
9 | 0.763 | 0.320 | 14 | 77326864 | stop gained | G/A;C;T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.763 | 0.320 | 7 | 75985688 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.080 | 1.000 | 8 | 2007 | 2014 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.070 | 1.000 | 7 | 2009 | 2014 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.040 | 1.000 | 4 | 2011 | 2018 | |||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
3 | 0.882 | 0.120 | 7 | 75980359 | synonymous variant | A/G;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.070 | 0.857 | 7 | 2007 | 2014 |