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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
39 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 0.700 | 1.000 | 3 | 2002 | 2008 | |||||
|
9 | 0.851 | 0.320 | 20 | 45894704 | frameshift variant | AT/- | delins | 0.700 | 1.000 | 3 | 1996 | 2014 | |||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
16 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
5 | 0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
46 | 0.695 | 0.400 | X | 48909843 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 1.000 | 0.200 | 2 | 219568150 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.925 | 0.200 | 6 | 43040335 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 1.000 | 0.200 | 6 | 43041036 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
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 | |||||
|
6 | 0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.827 | 0.240 | 21 | 37486563 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.925 | 21 | 37478285 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 0.925 | 21 | 37505442 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37496119 | frameshift variant | AGAT/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37486513 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
9 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |