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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.160 | 19 | 47839335 | missense variant | C/T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 1999 | 2014 | ||||
|
11 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 0.710 | 1.000 | 1 | 2008 | 2008 | |||
|
11 | 0.827 | 0.200 | 6 | 35509903 | frameshift variant | -/G | delins | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.080 | 1 | 197328844 | inframe insertion | AATTGATGG/-;AATTGATGGAATTGATGG | delins | 7.7E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 17 | 8013918 | missense variant | C/G;T | snv | 4.0E-06; 1.5E-04 | 0.800 | 1.000 | 15 | 1996 | 2018 | ||||
|
4 | 0.851 | 0.080 | 1 | 68438228 | missense variant | G/A;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.080 | 3 | 170483441 | missense variant | C/T | snv | 1.7E-03 | 5.9E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 17 | 8004104 | missense variant | T/C | snv | 0.700 | 1.000 | 9 | 1996 | 2018 | |||||
|
3 | 0.882 | 0.080 | 17 | 8003434 | frameshift variant | C/- | delins | 1.7E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 1996 | 2010 | |||
|
4 | 0.882 | 0.040 | 1 | 68431371 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.080 | 3 | 170480312 | missense variant | C/T | snv | 1.5E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 17 | 8015048 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 1 | 197429614 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 1 | 197328961 | frameshift variant | ATAGGAA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 8016291 | splice donor variant | G/C | snv | 5.8E-06 | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||
|
2 | 0.925 | 0.040 | 1 | 9972098 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
2 | 0.925 | 0.040 | 7 | 128400120 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 6 | 35505772 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 1 | 68431369 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 8014751 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.040 | 1 | 9982368 | stop gained | G/A | snv | 4.0E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 14 | 67727062 | missense variant | C/T | snv | 9.5E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | 1 | 68431106 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 17 | 8013919 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 |