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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.700 | 1.000 | 7 | 2012 | 2018 | ||||
|
2 | 1.000 | 0.200 | 13 | 32362543 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 7 | 1999 | 2018 | |||||
|
4 | 0.882 | 0.200 | 13 | 32370447 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2018 | ||||
|
3 | 0.925 | 0.200 | 13 | 32340378 | frameshift variant | -/G | delins | 0.700 | 1.000 | 7 | 2005 | 2018 | |||||
|
3 | 0.925 | 0.200 | 13 | 32341078 | frameshift variant | GA/- | delins | 0.700 | 1.000 | 6 | 2009 | 2018 | |||||
|
9 | 0.776 | 0.240 | 10 | 87925558 | splice region variant | AGTA/- | delins | 0.700 | 1.000 | 6 | 2000 | 2018 | |||||
|
2 | 1.000 | 0.080 | 13 | 48380062 | stop gained | C/A;G;T | snv | 7.6E-06 | 0.700 | 1.000 | 6 | 1995 | 2018 | ||||
|
7 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 0.700 | 1.000 | 6 | 2010 | 2018 | ||||
|
8 | 0.790 | 0.200 | 17 | 43092597 | stop gained | A/C;T | snv | 0.700 | 1.000 | 6 | 1998 | 2018 | |||||
|
2 | 1.000 | 0.120 | 13 | 32356521 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 2004 | 2018 | |||||
|
2 | 1.000 | 13 | 32362585 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2002 | 2018 | ||||||
|
2 | 1.000 | 13 | 32362681 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 2001 | 2018 | ||||||
|
2 | 1.000 | 13 | 32363379 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 2002 | 2018 | |||||
|
3 | 0.925 | 0.120 | 17 | 17224041 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2013 | 2018 | |||||
|
5 | 0.851 | 0.200 | 22 | 28734401 | splice donor variant | A/G;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 1.000 | 5 | 2013 | 2018 | ||||
|
3 | 1.000 | 0.160 | 2 | 47482786 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 5 | 2001 | 2018 | |||||
|
2 | 1.000 | 17 | 43092089 | frameshift variant | C/- | del | 4.0E-06 | 0.700 | 1.000 | 5 | 2008 | 2018 | |||||
|
3 | 1.000 | 0.080 | 3 | 36993521 | 5 prime UTR variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2018 | ||||
|
4 | 0.882 | 0.200 | 13 | 32398179 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2018 | ||||
|
1 | 17 | 17219018 | splice donor variant | C/T | snv | 0.700 | 1.000 | 3 | 2005 | 2018 | |||||||
|
2 | 1.000 | 0.200 | 11 | 108310188 | frameshift variant | G/CCT | delins | 0.700 | 1.000 | 3 | 1999 | 2018 | |||||
|
2 | 1.000 | 17 | 43099827 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2018 | |||||
|
4 | 0.882 | 0.200 | 17 | 43094390 | frameshift variant | -/C | delins | 0.700 | 1.000 | 3 | 2016 | 2018 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673535 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2018 | |||||
|
10 | 0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 |