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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.520 | 16 | 89935679 | missense variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
1 | 1.000 | 0.160 | 8 | 38424522 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.160 | 15 | 23686265 | missense variant | A/G | snv | 1.1E-03 | 3.7E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.160 | 3 | 57198887 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.240 | 8 | 38426158 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
7 | 0.827 | 0.240 | 8 | 38414569 | stop gained | G/A | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.280 | 10 | 120865109 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.280 | 9 | 137453808 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | X | 8536852 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 10 | 101775209 | missense variant | G/A | snv | 1.1E-03 | 8.0E-04 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.160 | 20 | 5314027 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.160 | 19 | 41238557 | missense variant | A/C | snv | 1.5E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.160 | 8 | 38461099 | frameshift variant | -/C | delins | 7.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 8 | 38417882 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | 7 | 84134868 | missense variant | G/A | snv | 5.3E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 20 | 5314033 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | X | 8535755 | missense variant | C/A;T | snv | 8.7E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.240 | 8 | 38414173 | missense variant | G/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.240 | 8 | 38414166 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.160 | 20 | 5302374 | missense variant | A/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 5 | 138465831 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.200 | 19 | 919955 | missense variant | C/A | snv | 3.3E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |