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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 10 | 43113603 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.851 | 0.120 | 10 | 43114596 | missense variant | A/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.120 | 10 | 43113613 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 10 | 43118418 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 10 | 43121967 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.750 | 0.833 | 6 | 2005 | 2015 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120119 | missense variant | AGC/TTT | mnv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 43106436 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 10 | 43120185 | synonymous variant | C/A;G | snv | 1.6E-05; 0.21 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 43100551 | missense variant | C/A;T | snv | 2.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.730 | 1.000 | 6 | 2002 | 2017 | ||||
|
2 | 1.000 | 0.080 | 10 | 43119694 | missense variant | C/G | snv | 1.8E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.120 | 10 | 43120114 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.120 | 10 | 43120129 | missense variant | C/T | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.120 | 10 | 43106382 | missense variant | G/A | snv | 6.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 10 | 43118397 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 10 | 43112853 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.800 | 1.000 | 12 | 1997 | 2019 | ||||
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.770 | 1.000 | 8 | 1995 | 2015 | ||||
|
27 | 0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 | 0.070 | 0.857 | 7 | 2009 | 2017 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.740 | 1.000 | 5 | 1995 | 2009 | ||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.730 | 1.000 | 4 | 1998 | 2015 | |||||
|
10 | 0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2003 | 2015 |