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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.160 | 22 | 28695868 | frameshift variant | AG/- | del | 0.700 | 1.000 | 22 | 1999 | 2014 | |||||
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.700 | 1.000 | 4 | 2004 | 2017 | ||||
|
2 | 0.925 | 0.440 | X | 133699902 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2014 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
5 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 11 | 32435341 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 8 | 24952575 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.240 | 9 | 36105267 | synonymous variant | A/C;G | snv | 4.0E-06; 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.280 | 11 | 32396372 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 22 | 30618390 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 11 | 32392053 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.200 | 1 | 26428582 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 5 | 914504 | stop gained | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
12 | 0.732 | 0.280 | 19 | 45370684 | 5 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
14 | 0.752 | 0.400 | 1 | 26427451 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.200 | 2 | 15939643 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |