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 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.320 | 16 | 16163110 | missense variant | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
11 | 0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 | 0.700 | 0 | |||||||
|
12 | 0.882 | 0.280 | 16 | 16154638 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
16 | 0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.280 | 16 | 16177622 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.280 | 16 | 16157770 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.400 | 13 | 32339288 | frameshift variant | GAAA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | X | 50086551 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
4 | 0.851 | 0.120 | X | 50090846 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
13 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
9 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.120 | 9 | 137232889 | missense variant | C/G;T | snv | 4.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.280 | 4 | 10000237 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.240 | 4 | 10048517 | intron variant | C/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.240 | 4 | 9933120 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.724 | 0.360 | 3 | 122274400 | intron variant | A/G | snv | 0.11 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 12 | 121638011 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.240 | 12 | 121631099 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |