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 | 0.080 | 4 | 70631707 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 50793784 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 50791780 | missense variant | C/A;G;T | snv | 8.3E-06; 8.3E-06; 5.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 50907067 | frameshift variant | A/- | del | 2.1E-04 | 2.8E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.827 | 0.200 | 17 | 49991807 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 2 | 96799118 | stop gained | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 209615408 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 209616513 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 17 | 49993440 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 53733062 | stop gained | G/A;C | snv | 2.4E-05; 3.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | X | 11294790 | start lost | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | X | 11294799 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 8 | 143730578 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 50795064 | missense variant | C/G | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 8 | 143728488 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 8 | 143728269 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 2 | 160142065 | missense variant | C/T | snv | 6.7E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 17 | 68555742 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 16 | 3050532 | missense variant | C/A;G;T | snv | 5.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 102625218 | stop gained | C/G;T | snv | 2.0E-05; 3.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 11 | 102611889 | missense variant | G/A | snv | 1.5E-03 | 1.8E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 2 | 160137782 | missense variant | C/T | snv | 8.0E-03 | 3.9E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 10 | 104053097 | stop gained | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 160172592 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |