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 | 0.040 | 4 | 71741961 | intron variant | T/G | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.040 | 14 | 94381078 | missense variant | A/G | snv | 0.21 | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 148827469 | missense variant | T/C | snv | 3.2E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 14 | 94382947 | frameshift variant | AGTG/- | delins | 0.700 | 0 | ||||||||
|
25 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 0.700 | 0 | ||||||||
|
16 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
18 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
25 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | 2 | 195857582 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | X | 47242504 | synonymous variant | G/A | snv | 1.1E-05 | 0.700 | 0 |