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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.807 | 0.280 | 21 | 37480785 | stop gained | -/A | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 0.700 | 0 | ||||||||
|
17 | 0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 18 | 44951954 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.200 | 11 | 61766173 | frameshift variant | GCACCGGGCCCCCCATC/T | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.200 | 11 | 61784321 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
13 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
24 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
50 | 0.672 | 0.560 | 16 | 30737343 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.120 | 14 | 64236600 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.240 | 9 | 96240885 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 17 | 36598163 | missense variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.790 | 0.160 | 9 | 96235528 | missense variant | C/A;G;T | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
4 | 0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2019 |