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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
17 | 0.716 | 0.360 | 12 | 109800665 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
13 | 0.776 | 0.400 | 1 | 19220814 | frameshift variant | AAGG/- | delins | 1.4E-05 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
15 | 0.851 | 0.160 | 19 | 40504064 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
21 | 0.807 | 0.400 | X | 153743532 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.925 | 0.200 | 6 | 43044835 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.807 | 0.200 | 6 | 43050050 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.200 | 6 | 43052582 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 16 | 30089130 | missense variant | G/A | snv | 2.2E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.851 | 0.120 | 2 | 240785063 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 44911317 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
34 | 0.716 | 0.400 | 19 | 13136099 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 15 | 48425420 | missense variant | A/G | snv | 0.700 | 0 |