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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.070 | 1.000 | 7 | 2009 | 2014 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.080 | 0.875 | 8 | 2007 | 2017 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
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 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.090 | 1.000 | 9 | 2005 | 2016 | |||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2010 | 2012 | |||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.060 | 1.000 | 6 | 2011 | 2017 | |||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.090 | 1.000 | 9 | 2006 | 2016 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2004 | 2014 |