| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.240 | 9 | 32984784 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.800 | 1.000 | 10 | 2001 | 2014 | |||
|
4 | 0.851 | 0.240 | 9 | 32974544 | missense variant | A/C | snv | 0.800 | 1.000 | 10 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.160 | 9 | 32984799 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.160 | 9 | 32984733 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 2 | 2010 | 2014 | ||||
|
6 | 0.807 | 0.280 | 9 | 32974495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.700 | 1.000 | 8 | 2001 | 2011 | ||||
|
1 | 1.000 | 0.160 | 9 | 32984805 | missense variant | C/T | snv | 1.6E-03; 4.0E-06 | 5.9E-03 | 0.700 | 1.000 | 8 | 2001 | 2014 | |||
|
1 | 1.000 | 0.160 | 9 | 32974497 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2001 | 2014 | ||||
|
6 | 0.882 | 0.240 | 9 | 32984704 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.160 | 9 | 32974556 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 32986031 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 32989768 | stop gained | G/A | snv | 4.4E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 9 | 32984711 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 32974491 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 19 | 49861766 | splice donor variant | TACCTGGCGC/- | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 32984808 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 9 | 32973654 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.280 | 9 | 32984662 | stop gained | G/A | snv | 8.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |