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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 19 | 11113615 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 19 | 11113738 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 0.925 | 0.200 | 16 | 16150646 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.280 | 16 | 16154638 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.925 | 0.200 | 16 | 16154767 | missense variant | G/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
7 | 1.000 | 0.160 | 16 | 16154873 | missense variant | C/G;T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
9 | 0.925 | 0.200 | 16 | 16154898 | missense variant | C/A;G;T | snv | 4.1E-06; 4.1E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-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 | |||||||
|
9 | 0.882 | 0.240 | 16 | 16155007 | missense variant | C/G;T | snv | 6.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.200 | 16 | 16155010 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
6 | 1.000 | 0.160 | 16 | 16155041 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.882 | 0.200 | 16 | 16157770 | frameshift variant | A/- | del | 8.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
9 | 0.925 | 0.200 | 16 | 16159505 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.790 | 0.240 | 16 | 16159555 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 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 | ||||||
|
7 | 0.925 | 0.160 | 16 | 16163159 | missense variant | G/A | snv | 9.2E-05 | 4.2E-05 | 0.700 | 0 |