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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.200 | X | 114584109 | 5 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2006 | 2011 | |||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.200 | 11 | 17387595 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2006 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2018 | |||||
|
5 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.070 | 1.000 | 7 | 2006 | 2020 | |||||
|
4 | 0.851 | 0.080 | 7 | 44153381 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2014 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.080 | 17 | 63533914 | missense variant | C/G;T | snv | 8.0E-06; 6.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv | 0.720 | 1.000 | 8 | 1998 | 2016 | |||||
|
6 | 0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 1990 | 2013 | ||||
|
3 | 0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2009 | |||||
|
2 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.080 | 11 | 17395658 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |