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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.724 | 0.440 | 10 | 99844450 | missense variant | C/G;T | snv | 2.4E-05; 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 16 | 9768993 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 2 | 96739883 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.120 | 10 | 93797277 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.280 | 8 | 91078597 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.080 | 8 | 91078383 | stop gained | C/T | snv | 1.6E-04 | 1.0E-04 | 0.700 | 0 | ||||||
|
15 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.120 | 16 | 89546657 | coding sequence variant | GGCGGGAGA/- | delins | 2.6E-04 | 4.2E-04 | 0.700 | 0 | ||||||
|
1 | 15 | 89333346 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
6 | 0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 1.000 | 3 | 2011 | 2015 | |||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 1.000 | 44 | 2001 | 2018 | |||
|
8 | 0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 1.000 | 7 | 2003 | 2013 | |||
|
8 | 0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 | 0.700 | 1.000 | 9 | 2006 | 2015 | ||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.700 | 1.000 | 6 | 2007 | 2019 | |||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 2 | 2002 | 2011 | |||
|
5 | 0.851 | 0.120 | 15 | 89320857 | missense variant | G/A | snv | 6.8E-04 | 3.4E-04 | 0.700 | 1.000 | 4 | 2007 | 2013 | |||
|
1 | 15 | 89319275 | frameshift variant | CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 15 | 89319225 | splice region variant | T/A;C | snv | 4.0E-05 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 1.000 | 0.080 | 15 | 89318736 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 0.700 | 1.000 | 9 | 2006 | 2013 |