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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.776 | 0.160 | 15 | 63060899 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.790 | 0.240 | 17 | 70175238 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.851 | 0.120 | 17 | 70175553 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 3 | 38604063 | synonymous variant | A/G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.120 | 11 | 2572963 | missense variant | G/A | snv | 4.8E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 0.080 | 1 | 237791441 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 1 | 237798037 | missense variant | G/A;T | snv | 1.7E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.080 | 3 | 38604780 | stop gained | A/G;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 1 | 237270518 | missense variant | T/C | snv | 4.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 6 | 121447691 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 6 | 7579983 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 7 | 150952443 | synonymous variant | G/A | snv | 0.30 | 0.26 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
17 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 3 | 38575342 | synonymous variant | G/A | snv | 4.1E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
5 | 0.851 | 0.080 | 12 | 110345436 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 12 | 2679712 | missense variant | C/T | snv | 9.2E-04 | 3.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
7 | 0.851 | 0.120 | 3 | 38560374 | missense variant | C/G;T | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 11 | 2847916 | synonymous variant | C/T | snv | 1.7E-04 | 2.8E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
10 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 0.050 | 1.000 | 5 | 2008 | 2017 | |||
|
9 | 0.790 | 0.240 | 1 | 237614784 | missense variant | G/A;T | snv | 4.0E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
15 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |