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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2007 | 2016 | |||||
|
5 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2011 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2009 | |||||
|
3 | 0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 1.000 | 0.120 | X | 154413248 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 178559769 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 12 | 92411657 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
3 | 1.000 | 0.040 | 1 | 15972817 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 0.710 | 1.000 | 10 | 2003 | 2018 | |||||
|
9 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 1.000 | 19 | 45385569 | stop gained | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1 | 156137653 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2008 | 2016 | |||||||
|
3 | 0.925 | 0.160 | 2 | 178528273 | splice donor variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 2 | 178538945 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||||
|
10 | 0.827 | 0.240 | 13 | 23805994 | stop gained | C/A;T | snv | 4.0E-06; 1.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 21 | 34966619 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
3 | 0.925 | 0.040 | 15 | 63043751 | missense variant | G/A | snv | 6.8E-06 | 0.040 | 1.000 | 4 | 2005 | 2009 | ||||
|
3 | 0.925 | 0.160 | 6 | 7579989 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.160 | 2 | 219425727 | missense variant | C/A;G;T | snv | 6.5E-05; 5.6E-04 | 0.020 | 1.000 | 2 | 2001 | 2008 | ||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1989 | 2013 | |||||
|
4 | 0.925 | 0.160 | 14 | 23417173 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.040 | 10 | 74112086 | missense variant | C/T | snv | 9.9E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2013 | |||
|
3 | 0.925 | 0.080 | 1 | 237270518 | missense variant | T/C | snv | 4.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |