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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 9 | 97689570 | frameshift variant | TAAGA/- | delins | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 3 | 1998 | 2016 | |||
|
2 | 0.925 | 0.160 | 3 | 14152376 | stop gained | T/A | snv | 3.5E-05 | 0.700 | 1.000 | 3 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.160 | 3 | 14167223 | frameshift variant | AT/- | delins | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 3 | 2000 | 2007 | |||
|
2 | 0.925 | 0.160 | 9 | 97675579 | stop gained | G/A | snv | 3.0E-04 | 3.2E-04 | 0.700 | 1.000 | 2 | 2010 | 2017 | |||
|
2 | 0.925 | 0.160 | 9 | 97684965 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 1992 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 14158239 | frameshift variant | CA/- | delins | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2006 | 2016 | |||
|
2 | 0.925 | 0.160 | 3 | 14148732 | splice acceptor variant | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.160 | 3 | 14168330 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
2 | 0.925 | 0.160 | 13 | 102872397 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 1994 | 1994 | ||||
|
2 | 0.925 | 0.160 | 9 | 97684929 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.160 | 19 | 45357267 | splice donor variant | -/A | delins | 4.0E-06; 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 1994 | 1994 | |||
|
1 | 1.000 | 0.160 | 13 | 102862320 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 16 | 13947991 | missense variant | C/G;T | snv | 4.8E-04 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2006 | 2018 | ||||
|
1 | 1.000 | 0.160 | 1 | 109687896 | stop gained | G/A | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.400 | 19 | 45352511 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.851 | 0.400 | 19 | 45352802 | missense variant | G/A | snv | 5.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.882 | 0.240 | 16 | 13926630 | missense variant | G/A;C;T | snv | 2.4E-05; 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.240 | 2 | 127261248 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
8 | 0.776 | 0.280 | 16 | 13935697 | missense variant | C/G;T | snv | 1.2E-05; 6.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 |