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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 8 | 60822055 | stop gained | C/A;T | snv | 5.2E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 6 | 49459376 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.827 | 0.160 | 5 | 123377409 | stop gained | G/A | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
13 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.827 | 0.160 | 1 | 155904739 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 5 | 173232792 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
3 | 1.000 | 0.120 | X | 33020138 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
17 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 8 | 11758294 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 5 | 173233011 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 2 | 130597533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 2 | 130522115 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
4 | 0.925 | 0.080 | 8 | 11758419 | missense variant | G/A;T | snv | 2.0E-03 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.882 | 0.120 | 9 | 6977633 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 7 | 151007245 | missense variant | C/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 8 | 11750166 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.080 | 8 | 11755064 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |